Canonical Allele Identifier: CA2077140172

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189428_20189430delinsCAA , CM000675.2:g.20189428_20189430delinsCAA	GRCh38
NC_000013.10:g.20763567_20763569delinsCAA , CM000675.1:g.20763567_20763569delinsCAA	GRCh37
NC_000013.9:g.19661567_19661569delinsCAA	NCBI36
NG_008358.1:g.8546_8548delinsTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.152_154delinsTTG	ENSP00000372295.1:p.Phe51=
ENST00000382848.5:c.152_154delinsTTG MANE Select	ENSP00000372299.4:p.Phe51=
ENST00000382844.1:c.152_154delinsTTG	ENSP00000372295.1:p.Phe51=
ENST00000382848.4:c.152_154delinsTTG	ENSP00000372299.4:p.Phe51=
NM_004004.5:c.152_154delinsTTG	NP_003995.2:p.Phe51=
XM_011535049.1:c.152_154delinsTTG	XP_011533351.1:p.Phe51=
XM_011535049.2:c.152_154delinsTTG	XP_011533351.1:p.Phe51=
NM_004004.6:c.152_154delinsTTG MANE Select	NP_003995.2:p.Phe51=