Canonical Allele Identifier: CA2629291478

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811432-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811432_71811433insT , CM000677.2:g.71811432_71811433insT	GRCh38
NC_000015.9:g.72103772_72103773insT , CM000677.1:g.72103772_72103773insT	GRCh37
NC_000015.8:g.69890826_69890827insT	NCBI36
NG_009113.2:g.5878_5879insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-51_119-50insT MANE Select	ENSP00000482504.1:n.119-51_119-50insT
ENST00000617575.4:c.119-51_119-50insT	ENSP00000482504.1:n.119-51_119-50insT
ENST00000621098.1:c.119-51_119-50insT	ENSP00000479962.1:n.119-51_119-50insT
ENST00000621736.4:c.-146-51_-146-50insT	ENSP00000479254.1:n.-146-51_-146-50insT
NM_014249.3:c.119-51_119-50insT	NP_055064.1:n.119-51_119-50insT
NM_016346.3:c.119-51_119-50insT	NP_057430.1:n.119-51_119-50insT
XM_011521146.1:c.-146-51_-146-50insT	XP_011519448.1:n.-146-51_-146-50insT
NM_014249.4:c.119-51_119-50insT MANE Select	NP_055064.1:n.119-51_119-50insT
NM_016346.4:c.119-51_119-50insT	NP_057430.1:n.119-51_119-50insT