Canonical Allele Identifier: CA2077139622

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189283_20189284delinsTG , CM000675.2:g.20189283_20189284delinsTG	GRCh38
NC_000013.10:g.20763422_20763423delinsTG , CM000675.1:g.20763422_20763423delinsTG	GRCh37
NC_000013.9:g.19661422_19661423delinsTG	NCBI36
NG_008358.1:g.8692_8693delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.298_299delinsCA	ENSP00000372295.1:p.His100=
ENST00000382848.5:c.298_299delinsCA MANE Select	ENSP00000372299.4:p.His100=
ENST00000382844.1:c.298_299delinsCA	ENSP00000372295.1:p.His100=
ENST00000382848.4:c.298_299delinsCA	ENSP00000372299.4:p.His100=
NM_004004.5:c.298_299delinsCA	NP_003995.2:p.His100=
XM_011535049.1:c.298_299delinsCA	XP_011533351.1:p.His100=
XM_011535049.2:c.298_299delinsCA	XP_011533351.1:p.His100=
NM_004004.6:c.298_299delinsCA MANE Select	NP_003995.2:p.His100=