Canonical Allele Identifier: CA912980095

Gene: GJB2

Linked Data

• MyVariant Identifiers: chr13:g.20763417_20763420del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189278_20189281del , CM000675.2:g.20189278_20189281del	GRCh38
NC_000013.10:g.20763417_20763420del , CM000675.1:g.20763417_20763420del	GRCh37
NC_000013.9:g.19661417_19661420del	NCBI36
NG_008358.1:g.8695_8698del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.301_304del	ENSP00000372295.1:p.Glu101ArgfsTer10
ENST00000382848.5:c.301_304del MANE Select	ENSP00000372299.4:p.Glu101ArgfsTer10
ENST00000382844.1:c.301_304del	ENSP00000372295.1:p.Glu101ArgfsTer10
ENST00000382848.4:c.301_304del	ENSP00000372299.4:p.Glu101ArgfsTer10
NM_004004.5:c.301_304del	NP_003995.2:p.Glu101ArgfsTer10
XM_011535049.1:c.301_304del	XP_011533351.1:p.Glu101ArgfsTer10
XM_011535049.2:c.301_304del	XP_011533351.1:p.Glu101ArgfsTer10
NM_004004.6:c.301_304del MANE Select	NP_003995.2:p.Glu101ArgfsTer10