INS insulin

Information
Symbol
INS
Type
protein-coding
Description
insulin
Entrez Gene ID
3630
Genome
hg19
Position
chr11:2,181,009-2,182,434
Genome
hg38
Position
chr11:2,159,779-2,161,204
MIM
176730 OMIM
HGNC
HGNC:6081 HGNC
Ensembl
ENSG00000254647 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 14 18
Likely pathogenic 0 34
Benign 0 32
Likely benign 0 54
Conflicting classifications of pathogenicity 0 52
Likely risk allele 0 22
not provided 1 10
Uncertain risk allele 0 4
Uncertain significance 0 72
Ranking
ClinVar
0
0
48
142
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM IDDM
SYNONYM IDDM1
SYNONYM IDDM2
SYNONYM ILPR
SYNONYM IRDN
SYNONYM MODY10
SYNONYM PNDM4
MIM 176730 OMIM
HGNC HGNC:6081 HGNC
Ensembl ENSG00000254647 Ensembl
AllianceGenome HGNC:6081
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000397262.5 hg38 chr11 2,159,779 2,161,204 1,426
ENST00000512523.1 hg38 chr11 2,159,852 2,160,971 1,120
ENST00000381330.5 hg38 chr11 2,159,779 2,161,209 1,431
ENST00000250971.7 hg38 chr11 2,159,779 2,161,221 1,443
ENST00000397262.5 hg19 chr11 2,181,009 2,182,434 1,426
ENST00000381330.5 hg19 chr11 2,181,009 2,182,439 1,431
ENST00000250971.7 hg19 chr11 2,181,009 2,182,451 1,443
ENST00000512523.1 hg19 chr11 2,181,082 2,182,201 1,120
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