Canonical Allele Identifier: CA2511641678

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811316_71811317insGGCGGGGATGAAC , CM000677.2:g.71811316_71811317insGGCGGGGATGAAC	GRCh38
NC_000015.9:g.72103656_72103657insGGCGGGGATGAAC , CM000677.1:g.72103656_72103657insGGCGGGGATGAAC	GRCh37
NC_000015.8:g.69890710_69890711insGGCGGGGATGAAC	NCBI36
NG_009113.2:g.5762_5763insGGCGGGGATGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-167_119-166insGGCGGGGATGAAC MANE Select	ENSP00000482504.1:n.119-167_119-166insGGCGGGGATGAAC
ENST00000617575.4:c.119-167_119-166insGGCGGGGATGAAC	ENSP00000482504.1:n.119-167_119-166insGGCGGGGATGAAC
ENST00000621098.1:c.119-167_119-166insGGCGGGGATGAAC	ENSP00000479962.1:n.119-167_119-166insGGCGGGGATGAAC
ENST00000621736.4:c.-146-167_-146-166insGGCGGGGATGAAC	ENSP00000479254.1:n.-146-167_-146-166insGGCGGGGATGAAC
NM_014249.3:c.119-167_119-166insGGCGGGGATGAAC	NP_055064.1:n.119-167_119-166insGGCGGGGATGAAC
NM_016346.3:c.119-167_119-166insGGCGGGGATGAAC	NP_057430.1:n.119-167_119-166insGGCGGGGATGAAC
XM_011521146.1:c.-146-167_-146-166insGGCGGGGATGAAC	XP_011519448.1:n.-146-167_-146-166insGGCGGGGATGAAC
NM_014249.4:c.119-167_119-166insGGCGGGGATGAAC MANE Select	NP_055064.1:n.119-167_119-166insGGCGGGGATGAAC
NM_016346.4:c.119-167_119-166insGGCGGGGATGAAC	NP_057430.1:n.119-167_119-166insGGCGGGGATGAAC