Canonical Allele Identifier: CA2077139427

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189221_20189224delinsTCTC , CM000675.2:g.20189221_20189224delinsTCTC	GRCh38
NC_000013.10:g.20763360_20763363delinsTCTC , CM000675.1:g.20763360_20763363delinsTCTC	GRCh37
NC_000013.9:g.19661360_19661363delinsTCTC	NCBI36
NG_008358.1:g.8752_8755delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.358_361delinsGAGA	ENSP00000372295.1:p.Glu120=
ENST00000382848.5:c.358_361delinsGAGA MANE Select	ENSP00000372299.4:p.Glu120=
ENST00000382844.1:c.358_361delinsGAGA	ENSP00000372295.1:p.Glu120=
ENST00000382848.4:c.358_361delinsGAGA	ENSP00000372299.4:p.Glu120=
NM_004004.5:c.358_361delinsGAGA	NP_003995.2:p.Glu120=
XM_011535049.1:c.358_361delinsGAGA	XP_011533351.1:p.Glu120=
XM_011535049.2:c.358_361delinsGAGA	XP_011533351.1:p.Glu120=
NM_004004.6:c.358_361delinsGAGA MANE Select	NP_003995.2:p.Glu120=