Canonical Allele Identifier: CA2077137481

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20187590_20187591delinsTC , CM000675.2:g.20187590_20187591delinsTC	GRCh38
NC_000013.10:g.20761729_20761730delinsTC , CM000675.1:g.20761729_20761730delinsTC	GRCh37
NC_000013.9:g.19659729_19659730delinsTC	NCBI36
NG_008358.1:g.10385_10386delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.*1310_*1311delinsGA	ENSP00000372295.1:n.*1310_*1311delinsGA
ENST00000382848.5:c.*1310_*1311delinsGA MANE Select	ENSP00000372299.4:n.*1310_*1311delinsGA
ENST00000382844.1:c.*1310_*1311delinsGA	ENSP00000372295.1:n.*1310_*1311delinsGA
ENST00000382848.4:c.*1310_*1311delinsGA	ENSP00000372299.4:n.*1310_*1311delinsGA
NM_004004.5:c.*1310_*1311delinsGA	NP_003995.2:n.*1310_*1311delinsGA
XM_011535049.1:c.*1310_*1311delinsGA	XP_011533351.1:n.*1310_*1311delinsGA
XM_011535049.2:c.*1310_*1311delinsGA	XP_011533351.1:n.*1310_*1311delinsGA
NM_004004.6:c.*1310_*1311delinsGA MANE Select	NP_003995.2:n.*1310_*1311delinsGA