Canonical Allele Identifier: CA2629291509

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811455-T-TGGCCCAGCCCTGCCCCCTGCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811456_71811478dup , CM000677.2:g.71811456_71811478dup	GRCh38
NC_000015.9:g.72103796_72103818dup , CM000677.1:g.72103796_72103818dup	GRCh37
NC_000015.8:g.69890850_69890872dup	NCBI36
NG_009113.2:g.5902_5924dup

Transcript Alleles

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