Canonical Allele Identifier: CA2077110309
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189631_20189634delinsGGAA , CM000675.2:g.20189631_20189634delinsGGAA GRCh38
NC_000013.10:g.20763770_20763773delinsGGAA , CM000675.1:g.20763770_20763773delinsGGAA GRCh37
NC_000013.9:g.19661770_19661773delinsGGAA NCBI36
NG_008358.1:g.8342_8345delinsTTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-53_-50delinsTTCC ENSP00000372295.1:n.-53_-50delinsTTCC
ENST00000382848.5:c.-22-31_-22-28delinsTTCC MANE Select ENSP00000372299.4:n.-22-31_-22-28delinsTTCC
ENST00000382844.1:c.-53_-50delinsTTCC ENSP00000372295.1:n.-53_-50delinsTTCC
ENST00000382848.4:c.-22-31_-22-28delinsTTCC ENSP00000372299.4:n.-22-31_-22-28delinsTTCC
NM_004004.5:c.-22-31_-22-28delinsTTCC NP_003995.2:n.-22-31_-22-28delinsTTCC
XM_011535049.1:c.-22-31_-22-28delinsTTCC XP_011533351.1:n.-22-31_-22-28delinsTTCC
XM_011535049.2:c.-22-31_-22-28delinsTTCC XP_011533351.1:n.-22-31_-22-28delinsTTCC
NM_004004.6:c.-22-31_-22-28delinsTTCC MANE Select NP_003995.2:n.-22-31_-22-28delinsTTCC