Canonical Allele Identifier: CA953780548
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1959047164
gnomAD v3: 13-20187623-A-AGT
gnomAD v4: 13-20187623-A-AGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187623_20187624insGT , CM000675.2:g.20187623_20187624insGT GRCh38
NC_000013.10:g.20761762_20761763insGT , CM000675.1:g.20761762_20761763insGT GRCh37
NC_000013.9:g.19659762_19659763insGT NCBI36
NG_008358.1:g.10352_10353insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*1277_*1278insAC ENSP00000372295.1:n.*1277_*1278insAC
ENST00000382848.5:c.*1277_*1278insAC MANE Select ENSP00000372299.4:n.*1277_*1278insAC
ENST00000382844.1:c.*1277_*1278insAC ENSP00000372295.1:n.*1277_*1278insAC
ENST00000382848.4:c.*1277_*1278insAC ENSP00000372299.4:n.*1277_*1278insAC
NM_004004.5:c.*1277_*1278insAC NP_003995.2:n.*1277_*1278insAC
XM_011535049.1:c.*1277_*1278insAC XP_011533351.1:n.*1277_*1278insAC
XM_011535049.2:c.*1277_*1278insAC XP_011533351.1:n.*1277_*1278insAC
NM_004004.6:c.*1277_*1278insAC MANE Select NP_003995.2:n.*1277_*1278insAC
Search 100 bp 5'
Search 100 bp 3'