Canonical Allele Identifier: CA2186513462

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811352_71811357delinsCGCGTG , CM000677.2:g.71811352_71811357delinsCGCGTG	GRCh38
NC_000015.9:g.72103692_72103697delinsCGCGTG , CM000677.1:g.72103692_72103697delinsCGCGTG	GRCh37
NC_000015.8:g.69890746_69890751delinsCGCGTG	NCBI36
NG_009113.2:g.5798_5803delinsCGCGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-131_119-126delinsCGCGTG MANE Select	ENSP00000482504.1:n.119-131_119-126delinsCGCGTG
ENST00000617575.4:c.119-131_119-126delinsCGCGTG	ENSP00000482504.1:n.119-131_119-126delinsCGCGTG
ENST00000621098.1:c.119-131_119-126delinsCGCGTG	ENSP00000479962.1:n.119-131_119-126delinsCGCGTG
ENST00000621736.4:c.-146-131_-146-126delinsCGCGTG	ENSP00000479254.1:n.-146-131_-146-126delinsCGCGTG
NM_014249.3:c.119-131_119-126delinsCGCGTG	NP_055064.1:n.119-131_119-126delinsCGCGTG
NM_016346.3:c.119-131_119-126delinsCGCGTG	NP_057430.1:n.119-131_119-126delinsCGCGTG
XM_011521146.1:c.-146-131_-146-126delinsCGCGTG	XP_011519448.1:n.-146-131_-146-126delinsCGCGTG
NM_014249.4:c.119-131_119-126delinsCGCGTG MANE Select	NP_055064.1:n.119-131_119-126delinsCGCGTG
NM_016346.4:c.119-131_119-126delinsCGCGTG	NP_057430.1:n.119-131_119-126delinsCGCGTG