Canonical Allele Identifier: CA2842434868

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189357_20189359del , CM000675.2:g.20189357_20189359del	GRCh38
NC_000013.10:g.20763496_20763498del , CM000675.1:g.20763496_20763498del	GRCh37
NC_000013.9:g.19661496_19661498del	NCBI36
NG_008358.1:g.8618_8620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.224_226del	ENSP00000372295.1:p.Arg75del
ENST00000382848.5:c.224_226del MANE Select	ENSP00000372299.4:p.Arg75del
ENST00000382844.1:c.224_226del	ENSP00000372295.1:p.Arg75del
ENST00000382848.4:c.224_226del	ENSP00000372299.4:p.Arg75del
NM_004004.5:c.224_226del	NP_003995.2:p.Arg75del
XM_011535049.1:c.224_226del	XP_011533351.1:p.Arg75del
XM_011535049.2:c.224_226del	XP_011533351.1:p.Arg75del
NM_004004.6:c.224_226del MANE Select	NP_003995.2:p.Arg75del