Canonical Allele Identifier: CA645587645
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 496219
ClinVar RCV Id: RCV000587675
dbSNP Id: rs1555341934
gnomAD v4: 13-20189271-CTCT-C
COSMIC: COSM4687019
MyVariant Identifiers: chr13:g.20763411_20763413del (hg19) chr13:g.20189272_20189274del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189278_20189280del , CM000675.2:g.20189278_20189280del GRCh38
NC_000013.10:g.20763417_20763419del , CM000675.1:g.20763417_20763419del GRCh37
NC_000013.9:g.19661417_19661419del NCBI36
NG_008358.1:g.8702_8704del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.308_310del ENSP00000372295.1:p.Lys103del
ENST00000382848.5:c.308_310del MANE Select ENSP00000372299.4:p.Lys103del
ENST00000382844.1:c.308_310del ENSP00000372295.1:p.Lys103del
ENST00000382848.4:c.308_310del ENSP00000372299.4:p.Lys103del
NM_004004.5:c.308_310del NP_003995.2:p.Lys103del
XM_011535049.1:c.308_310del XP_011533351.1:p.Lys103del
XM_011535049.2:c.308_310del XP_011533351.1:p.Lys103del
NM_004004.6:c.308_310del MANE Select NP_003995.2:p.Lys103del
Search 100 bp 5'
Search 100 bp 3'