chr4:54726017:>GCCTAT Detail (hg38) (KIT)

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Summary
Information
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Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr4:55,592,183-55,592,183
hg38	chr4:54,726,017-54,726,017

HGVS

KIT

Type	Transcript	Protein
RefSeq	NM_000222.2:c.1506_1507insGCCTAT	NP_000213.1:p.Ala502_Tyr503insAlaTyr
	NM_001093772.1:c.1509_1510insGCCTAT	NP_001087241.1:p.Ala503_Tyr504insAlaTyr
Ensemble	ENST00000288135.6:c.1506_1507insGCCTAT	ENST00000288135.6:p.Ala502_Tyr503insAlaTyr
	ENST00000412167.7:c.1509_1510insGCCTAT	ENST00000412167.7:p.Ala503_Tyr504insAlaTyr
	ENST00000686011.1:c.1506_1507insGCCTAT	ENST00000686011.1:p.Ala502_Tyr503insAlaTyr
	ENST00000687109.1:c.1509_1510insGCCTAT	ENST00000687109.1:p.Ala503_Tyr504insAlaTyr
	ENST00000687246.1:c.1506_1507insGCCTAT	ENST00000687246.1:p.Ala502_Tyr503insAlaTyr
	ENST00000687295.1:c.1506_1507insGCCTAT	ENST00000687295.1:p.Ala502_Tyr503insAlaTyr
	ENST00000689832.1:c.1509_1510insGCCTAT	ENST00000689832.1:p.Ala503_Tyr504insAlaTyr
	ENST00000689994.1:c.996_997insGCCTAT	ENST00000689994.1:p.Ala332_Tyr333insAlaTyr
	ENST00000690543.1:c.1509_1510insGCCTAT	ENST00000690543.1:p.Ala503_Tyr504insAlaTyr
	ENST00000692783.1:c.1506_1507insGCCTAT	ENST00000692783.1:p.Ala502_Tyr503insAlaTyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

KIT

Type	Database	ID	Link
Gene	MIM	164920	OMIM
	HGNC	6342	HGNC
	Ensembl	ENSG00000157404	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
cancer	Sunitinib	D	Predictive	Does Not Support	Resistance	Somatic	2	18955458	Detail
gastrointestinal stromal tumor	Ponatinib,Regorafenib,Imatinib	D	Predictive	Does Not Support	Sensitivity/Response	Somatic	3	25239608	Detail
gastrointestinal stromal tumor	Sunitinib	D	Predictive	Supports	Sensitivity/Response	Somatic	2	25239608	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In an in vitro study, Chinese hamster ovary cells expressing KIT A502_Y503INSAY demonstrated compara...	CIViC Evidence	Detail
In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT A502_Y503insAY primary activ...	CIViC Evidence	Detail
In an in vitro study, an IL3 independant Ba/F3 cell line expressing KIT V560D primary activating mut...	CIViC Evidence	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr4:54,726,017-54,726,017
Variant Type: snv
Reference Allele: -
Alternative Allele: GCCTAT
Variant (CIViC) (CIViC Variant): A502_Y503insAY
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1558

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