Canonical Allele Identifier: CA2695217673

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189222_20189230del , CM000675.2:g.20189222_20189230del	GRCh38
NC_000013.10:g.20763361_20763369del , CM000675.1:g.20763361_20763369del	GRCh37
NC_000013.9:g.19661361_19661369del	NCBI36
NG_008358.1:g.8749_8757del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.355_363del	ENSP00000372295.1:p.Glu119_Ile121del
ENST00000382848.5:c.355_363del MANE Select	ENSP00000372299.4:p.Glu119_Ile121del
ENST00000382844.1:c.355_363del	ENSP00000372295.1:p.Glu119_Ile121del
ENST00000382848.4:c.355_363del	ENSP00000372299.4:p.Glu119_Ile121del
NM_004004.5:c.355_363del	NP_003995.2:p.Glu119_Ile121del
XM_011535049.1:c.355_363del	XP_011533351.1:p.Glu119_Ile121del
XM_011535049.2:c.355_363del	XP_011533351.1:p.Glu119_Ile121del
NM_004004.6:c.355_363del MANE Select	NP_003995.2:p.Glu119_Ile121del