Canonical Allele Identifier: CA2077139387

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189211_20189212delinsTG , CM000675.2:g.20189211_20189212delinsTG	GRCh38
NC_000013.10:g.20763350_20763351delinsTG , CM000675.1:g.20763350_20763351delinsTG	GRCh37
NC_000013.9:g.19661350_19661351delinsTG	NCBI36
NG_008358.1:g.8764_8765delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.370_371delinsCA	ENSP00000372295.1:p.Gln124=
ENST00000382848.5:c.370_371delinsCA MANE Select	ENSP00000372299.4:p.Gln124=
ENST00000382844.1:c.370_371delinsCA	ENSP00000372295.1:p.Gln124=
ENST00000382848.4:c.370_371delinsCA	ENSP00000372299.4:p.Gln124=
NM_004004.5:c.370_371delinsCA	NP_003995.2:p.Gln124=
XM_011535049.1:c.370_371delinsCA	XP_011533351.1:p.Gln124=
XM_011535049.2:c.370_371delinsCA	XP_011533351.1:p.Gln124=
NM_004004.6:c.370_371delinsCA MANE Select	NP_003995.2:p.Gln124=