Canonical Allele Identifier: CA2077140204

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189440_20189445delinsGCTCAT , CM000675.2:g.20189440_20189445delinsGCTCAT	GRCh38
NC_000013.10:g.20763579_20763584delinsGCTCAT , CM000675.1:g.20763579_20763584delinsGCTCAT	GRCh37
NC_000013.9:g.19661579_19661584delinsGCTCAT	NCBI36
NG_008358.1:g.8531_8536delinsATGAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.137_142delinsATGAGC	ENSP00000372295.1:p.Asp46=
ENST00000382848.5:c.137_142delinsATGAGC MANE Select	ENSP00000372299.4:p.Asp46=
ENST00000382844.1:c.137_142delinsATGAGC	ENSP00000372295.1:p.Asp46=
ENST00000382848.4:c.137_142delinsATGAGC	ENSP00000372299.4:p.Asp46=
NM_004004.5:c.137_142delinsATGAGC	NP_003995.2:p.Asp46=
XM_011535049.1:c.137_142delinsATGAGC	XP_011533351.1:p.Asp46=
XM_011535049.2:c.137_142delinsATGAGC	XP_011533351.1:p.Asp46=
NM_004004.6:c.137_142delinsATGAGC MANE Select	NP_003995.2:p.Asp46=