Canonical Allele Identifier: CA2077138861

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189016_20189018delinsGTC , CM000675.2:g.20189016_20189018delinsGTC	GRCh38
NC_000013.10:g.20763155_20763157delinsGTC , CM000675.1:g.20763155_20763157delinsGTC	GRCh37
NC_000013.9:g.19661155_19661157delinsGTC	NCBI36
NG_008358.1:g.8958_8960delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.564_566delinsGAC	ENSP00000372295.1:p.Lys188=
ENST00000382848.5:c.564_566delinsGAC MANE Select	ENSP00000372299.4:p.Lys188=
ENST00000382844.1:c.564_566delinsGAC	ENSP00000372295.1:p.Lys188=
ENST00000382848.4:c.564_566delinsGAC	ENSP00000372299.4:p.Lys188=
NM_004004.5:c.564_566delinsGAC	NP_003995.2:p.Lys188=
XM_011535049.1:c.564_566delinsGAC	XP_011533351.1:p.Lys188=
XM_011535049.2:c.564_566delinsGAC	XP_011533351.1:p.Lys188=
NM_004004.6:c.564_566delinsGAC MANE Select	NP_003995.2:p.Lys188=