Canonical Allele Identifier: CA919587011

Gene: NR2E3

Linked Data

• dbSNP Id: rs1555454542
• gnomAD v3: 15-71811455-T-TGGCCCAGCCCTGCCCC
• gnomAD v4: 15-71811455-T-TGGCCCAGCCCTGCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811456_71811471dup , CM000677.2:g.71811456_71811471dup	GRCh38
NC_000015.9:g.72103796_72103811dup , CM000677.1:g.72103796_72103811dup	GRCh37
NC_000015.8:g.69890850_69890865dup	NCBI36
NG_009113.2:g.5902_5917dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-27_119-12dup MANE Select	ENSP00000482504.1:n.119-27_119-12dup
ENST00000617575.4:c.119-27_119-12dup	ENSP00000482504.1:n.119-27_119-12dup
ENST00000621098.1:c.119-27_119-12dup	ENSP00000479962.1:n.119-27_119-12dup
ENST00000621736.4:c.-146-27_-146-12dup	ENSP00000479254.1:n.-146-27_-146-12dup
NM_014249.3:c.119-27_119-12dup	NP_055064.1:n.119-27_119-12dup
NM_016346.3:c.119-27_119-12dup	NP_057430.1:n.119-27_119-12dup
XM_011521146.1:c.-146-27_-146-12dup	XP_011519448.1:n.-146-27_-146-12dup
NM_014249.4:c.119-27_119-12dup MANE Select	NP_055064.1:n.119-27_119-12dup
NM_016346.4:c.119-27_119-12dup	NP_057430.1:n.119-27_119-12dup