Canonical Allele Identifier: CA2629291549

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811506-C-CGCGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811510_71811515dup , CM000677.2:g.71811510_71811515dup	GRCh38
NC_000015.9:g.72103850_72103855dup , CM000677.1:g.72103850_72103855dup	GRCh37
NC_000015.8:g.69890904_69890909dup	NCBI36
NG_009113.2:g.5956_5961dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.146_151dup MANE Select	ENSP00000482504.1:p.Cys50_Gly51insValCys
ENST00000617575.4:c.146_151dup	ENSP00000482504.1:p.Cys50_Gly51insValCys
ENST00000621098.1:c.146_151dup	ENSP00000479962.1:p.Cys50_Gly51insValCys
ENST00000621736.4:c.-119_-114dup	ENSP00000479254.1:n.-119_-114dup
NM_014249.3:c.146_151dup	NP_055064.1:p.Cys50_Gly51insValCys
NM_016346.3:c.146_151dup	NP_057430.1:p.Cys50_Gly51insValCys
XM_011521146.1:c.-119_-114dup	XP_011519448.1:n.-119_-114dup
NM_014249.4:c.146_151dup MANE Select	NP_055064.1:p.Cys50_Gly51insValCys
NM_016346.4:c.146_151dup	NP_057430.1:p.Cys50_Gly51insValCys