Canonical Allele Identifier: CA2622252268

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189013_20189016del , CM000675.2:g.20189013_20189016del	GRCh38
NC_000013.10:g.20763152_20763155del , CM000675.1:g.20763152_20763155del	GRCh37
NC_000013.9:g.19661152_19661155del	NCBI36
NG_008358.1:g.8962_8965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.568_571del	ENSP00000372295.1:p.Val190SerfsTer5
ENST00000382848.5:c.568_571del MANE Select	ENSP00000372299.4:p.Val190SerfsTer5
ENST00000382844.1:c.568_571del	ENSP00000372295.1:p.Val190SerfsTer5
ENST00000382848.4:c.568_571del	ENSP00000372299.4:p.Val190SerfsTer5
NM_004004.5:c.568_571del	NP_003995.2:p.Val190SerfsTer5
XM_011535049.1:c.568_571del	XP_011533351.1:p.Val190SerfsTer5
XM_011535049.2:c.568_571del	XP_011533351.1:p.Val190SerfsTer5
NM_004004.6:c.568_571del MANE Select	NP_003995.2:p.Val190SerfsTer5