Canonical Allele Identifier: CA608984149
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1566529147
MyVariant Identifiers: chr13:g.20763735del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189597del , CM000675.2:g.20189597del GRCh38
NC_000013.10:g.20763736del , CM000675.1:g.20763736del GRCh37
NC_000013.9:g.19661736del NCBI36
NG_008358.1:g.8380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-15del ENSP00000372295.1:n.-15del
ENST00000382848.5:c.-15del MANE Select ENSP00000372299.4:n.-15del
ENST00000382844.1:c.-15del ENSP00000372295.1:n.-15del
ENST00000382848.4:c.-15del ENSP00000372299.4:n.-15del
NM_004004.5:c.-15del NP_003995.2:n.-15del
XM_011535049.1:c.-15del XP_011533351.1:n.-15del
XM_011535049.2:c.-15del XP_011533351.1:n.-15del
NM_004004.6:c.-15del MANE Select NP_003995.2:n.-15del