Canonical Allele Identifier: CA483154211
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188911_20188912insA , CM000675.2:g.20188911_20188912insA GRCh38
NC_000013.10:g.20763050_20763051insA , CM000675.1:g.20763050_20763051insA GRCh37
NC_000013.9:g.19661050_19661051insA NCBI36
NG_008358.1:g.9064_9065insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.670_671insT ENSP00000372295.1:p.Lys224IlefsTer?
ENST00000382848.5:c.670_671insT MANE Select ENSP00000372299.4:p.Lys224IlefsTer?
ENST00000382844.1:c.670_671insT ENSP00000372295.1:p.Lys224IlefsTer?
ENST00000382848.4:c.670_671insT ENSP00000372299.4:p.Lys224IlefsTer?
NM_004004.5:c.670_671insT NP_003995.2:p.Lys224IlefsTer?
XM_011535049.1:c.670_671insT XP_011533351.1:p.Lys224IlefsTer?
XM_011535049.2:c.670_671insT XP_011533351.1:p.Lys224IlefsTer?
NM_004004.6:c.670_671insT MANE Select NP_003995.2:p.Lys224IlefsTer?