CELA1 chymotrypsin like elastase 1

Information
Symbol
CELA1
Type
protein-coding
Description
chymotrypsin like elastase 1
Entrez Gene ID
1990
Genome
hg19
Position
chr12:51,722,226-51,740,463
Genome
hg38
Position
chr12:51,328,442-51,346,679
MIM
130120 OMIM
HGNC
HGNC:3308 HGNC
Ensembl
ENSG00000139610 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
42
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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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 :
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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 :
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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 ELA1
MIM 130120 OMIM
HGNC HGNC:3308 HGNC
Ensembl ENSG00000139610 Ensembl
AllianceGenome HGNC:3308
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000293636.2 hg38 chr12 51,328,442 51,346,679 18,238
ENST00000293636.2 hg19 chr12 51,722,226 51,740,463 18,238
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