Canonical Allele Identifier: CA2695217717

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189397_20189398insA , CM000675.2:g.20189397_20189398insA	GRCh38
NC_000013.10:g.20763536_20763537insA , CM000675.1:g.20763536_20763537insA	GRCh37
NC_000013.9:g.19661536_19661537insA	NCBI36
NG_008358.1:g.8578_8579insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.184_185insT	ENSP00000372295.1:p.Asn62IlefsTer?
ENST00000382848.5:c.184_185insT MANE Select	ENSP00000372299.4:p.Asn62IlefsTer?
ENST00000382844.1:c.184_185insT	ENSP00000372295.1:p.Asn62IlefsTer?
ENST00000382848.4:c.184_185insT	ENSP00000372299.4:p.Asn62IlefsTer?
NM_004004.5:c.184_185insT	NP_003995.2:p.Asn62IlefsTer?
XM_011535049.1:c.184_185insT	XP_011533351.1:p.Asn62IlefsTer?
XM_011535049.2:c.184_185insT	XP_011533351.1:p.Asn62IlefsTer?
NM_004004.6:c.184_185insT MANE Select	NP_003995.2:p.Asn62IlefsTer?