Canonical Allele Identifier: CA658656318
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447445
ClinVar RCV Id: RCV000518118
dbSNP Id: rs1555341910
MyVariant Identifiers: chr13:g.20763318_20763320del (hg19) chr13:g.20189179_20189181del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189179_20189181del , CM000675.2:g.20189179_20189181del GRCh38
NC_000013.10:g.20763318_20763320del , CM000675.1:g.20763318_20763320del GRCh37
NC_000013.9:g.19661318_19661320del NCBI36
NG_008358.1:g.8795_8797del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.401_403del ENSP00000372295.1:p.Trp134_Thr135delinsSer
ENST00000382848.5:c.401_403del MANE Select ENSP00000372299.4:p.Trp134_Thr135delinsSer
ENST00000382844.1:c.401_403del ENSP00000372295.1:p.Trp134_Thr135delinsSer
ENST00000382848.4:c.401_403del ENSP00000372299.4:p.Trp134_Thr135delinsSer
NM_004004.5:c.401_403del NP_003995.2:p.Trp134_Thr135delinsSer
XM_011535049.1:c.401_403del XP_011533351.1:p.Trp134_Thr135delinsSer
XM_011535049.2:c.401_403del XP_011533351.1:p.Trp134_Thr135delinsSer
NM_004004.6:c.401_403del MANE Select NP_003995.2:p.Trp134_Thr135delinsSer
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