Canonical Allele Identifier: CA912980096

Gene: GJB2

Linked Data

• MyVariant Identifiers: chr13:g.20763463_20763464del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189324_20189325del , CM000675.2:g.20189324_20189325del	GRCh38
NC_000013.10:g.20763463_20763464del , CM000675.1:g.20763463_20763464del	GRCh37
NC_000013.9:g.19661463_19661464del	NCBI36
NG_008358.1:g.8652_8653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.258_259del	ENSP00000372295.1:p.Pro87SerfsTer14
ENST00000382848.5:c.258_259del MANE Select	ENSP00000372299.4:p.Pro87SerfsTer14
ENST00000382844.1:c.258_259del	ENSP00000372295.1:p.Pro87SerfsTer14
ENST00000382848.4:c.258_259del	ENSP00000372299.4:p.Pro87SerfsTer14
NM_004004.5:c.258_259del	NP_003995.2:p.Pro87SerfsTer14
XM_011535049.1:c.258_259del	XP_011533351.1:p.Pro87SerfsTer14
XM_011535049.2:c.258_259del	XP_011533351.1:p.Pro87SerfsTer14
NM_004004.6:c.258_259del MANE Select	NP_003995.2:p.Pro87SerfsTer14