Canonical Allele Identifier: CA2077110161

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189591_20189592delinsTG , CM000675.2:g.20189591_20189592delinsTG	GRCh38
NC_000013.10:g.20763730_20763731delinsTG , CM000675.1:g.20763730_20763731delinsTG	GRCh37
NC_000013.9:g.19661730_19661731delinsTG	NCBI36
NG_008358.1:g.8384_8385delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-11_-10delinsCA	ENSP00000372295.1:n.-11_-10delinsCA
ENST00000382848.5:c.-11_-10delinsCA MANE Select	ENSP00000372299.4:n.-11_-10delinsCA
ENST00000382844.1:c.-11_-10delinsCA	ENSP00000372295.1:n.-11_-10delinsCA
ENST00000382848.4:c.-11_-10delinsCA	ENSP00000372299.4:n.-11_-10delinsCA
NM_004004.5:c.-11_-10delinsCA	NP_003995.2:n.-11_-10delinsCA
XM_011535049.1:c.-11_-10delinsCA	XP_011533351.1:n.-11_-10delinsCA
XM_011535049.2:c.-11_-10delinsCA	XP_011533351.1:n.-11_-10delinsCA
NM_004004.6:c.-11_-10delinsCA MANE Select	NP_003995.2:n.-11_-10delinsCA