Canonical Allele Identifier: CA2077138937

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189048_20189059delinsCACAGTGTTGGG , CM000675.2:g.20189048_20189059delinsCACAGTGTTGGG	GRCh38
NC_000013.10:g.20763187_20763198delinsCACAGTGTTGGG , CM000675.1:g.20763187_20763198delinsCACAGTGTTGGG	GRCh37
NC_000013.9:g.19661187_19661198delinsCACAGTGTTGGG	NCBI36
NG_008358.1:g.8917_8928delinsCCCAACACTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.523_534delinsCCCAACACTGTG	ENSP00000372295.1:p.Pro175=
ENST00000382848.5:c.523_534delinsCCCAACACTGTG MANE Select	ENSP00000372299.4:p.Pro175=
ENST00000382844.1:c.523_534delinsCCCAACACTGTG	ENSP00000372295.1:p.Pro175=
ENST00000382848.4:c.523_534delinsCCCAACACTGTG	ENSP00000372299.4:p.Pro175=
NM_004004.5:c.523_534delinsCCCAACACTGTG	NP_003995.2:p.Pro175=
XM_011535049.1:c.523_534delinsCCCAACACTGTG	XP_011533351.1:p.Pro175=
XM_011535049.2:c.523_534delinsCCCAACACTGTG	XP_011533351.1:p.Pro175=
NM_004004.6:c.523_534delinsCCCAACACTGTG MANE Select	NP_003995.2:p.Pro175=