Canonical Allele Identifier: CA2077139497

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189253_20189255delinsTCC , CM000675.2:g.20189253_20189255delinsTCC	GRCh38
NC_000013.10:g.20763392_20763394delinsTCC , CM000675.1:g.20763392_20763394delinsTCC	GRCh37
NC_000013.9:g.19661392_19661394delinsTCC	NCBI36
NG_008358.1:g.8721_8723delinsGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.327_329delinsGGA	ENSP00000372295.1:p.Gly109=
ENST00000382848.5:c.327_329delinsGGA MANE Select	ENSP00000372299.4:p.Gly109=
ENST00000382844.1:c.327_329delinsGGA	ENSP00000372295.1:p.Gly109=
ENST00000382848.4:c.327_329delinsGGA	ENSP00000372299.4:p.Gly109=
NM_004004.5:c.327_329delinsGGA	NP_003995.2:p.Gly109=
XM_011535049.1:c.327_329delinsGGA	XP_011533351.1:p.Gly109=
XM_011535049.2:c.327_329delinsGGA	XP_011533351.1:p.Gly109=
NM_004004.6:c.327_329delinsGGA MANE Select	NP_003995.2:p.Gly109=