Canonical Allele Identifier: CA2695217730

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189576dup , CM000675.2:g.20189576dup	GRCh38
NC_000013.10:g.20763715dup , CM000675.1:g.20763715dup	GRCh37
NC_000013.9:g.19661715dup	NCBI36
NG_008358.1:g.8401dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.7dup	ENSP00000372295.1:p.Trp3LeufsTer?
ENST00000382848.5:c.7dup MANE Select	ENSP00000372299.4:p.Trp3LeufsTer?
ENST00000382844.1:c.7dup	ENSP00000372295.1:p.Trp3LeufsTer?
ENST00000382848.4:c.7dup	ENSP00000372299.4:p.Trp3LeufsTer?
NM_004004.5:c.7dup	NP_003995.2:p.Trp3LeufsTer?
XM_011535049.1:c.7dup	XP_011533351.1:p.Trp3LeufsTer?
XM_011535049.2:c.7dup	XP_011533351.1:p.Trp3LeufsTer?
NM_004004.6:c.7dup MANE Select	NP_003995.2:p.Trp3LeufsTer?