Canonical Allele Identifier: CA2077139597

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189278_20189281delinsTCTC , CM000675.2:g.20189278_20189281delinsTCTC	GRCh38
NC_000013.10:g.20763417_20763420delinsTCTC , CM000675.1:g.20763417_20763420delinsTCTC	GRCh37
NC_000013.9:g.19661417_19661420delinsTCTC	NCBI36
NG_008358.1:g.8695_8698delinsGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.301_304delinsGAGA	ENSP00000372295.1:p.Glu101=
ENST00000382848.5:c.301_304delinsGAGA MANE Select	ENSP00000372299.4:p.Glu101=
ENST00000382844.1:c.301_304delinsGAGA	ENSP00000372295.1:p.Glu101=
ENST00000382848.4:c.301_304delinsGAGA	ENSP00000372299.4:p.Glu101=
NM_004004.5:c.301_304delinsGAGA	NP_003995.2:p.Glu101=
XM_011535049.1:c.301_304delinsGAGA	XP_011533351.1:p.Glu101=
XM_011535049.2:c.301_304delinsGAGA	XP_011533351.1:p.Glu101=
NM_004004.6:c.301_304delinsGAGA MANE Select	NP_003995.2:p.Glu101=