Canonical Allele Identifier: CA2575364820

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189246_20189249del , CM000675.2:g.20189246_20189249del	GRCh38
NC_000013.10:g.20763385_20763388del , CM000675.1:g.20763385_20763388del	GRCh37
NC_000013.9:g.19661385_19661388del	NCBI36
NG_008358.1:g.8728_8731del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.334_337del	ENSP00000372295.1:p.Lys112ValfsTer?
ENST00000382848.5:c.334_337del MANE Select	ENSP00000372299.4:p.Lys112ValfsTer?
ENST00000382844.1:c.334_337del	ENSP00000372295.1:p.Lys112ValfsTer?
ENST00000382848.4:c.334_337del	ENSP00000372299.4:p.Lys112ValfsTer?
NM_004004.5:c.334_337del	NP_003995.2:p.Lys112ValfsTer?
XM_011535049.1:c.334_337del	XP_011533351.1:p.Lys112ValfsTer?
XM_011535049.2:c.334_337del	XP_011533351.1:p.Lys112ValfsTer?
NM_004004.6:c.334_337del MANE Select	NP_003995.2:p.Lys112ValfsTer?