Canonical Allele Identifier: CA2629291492
Gene: NR2E3 HGNC NCBI

Linked Data

gnomAD v4: 15-71811445-A-AGCCCTGCCCTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811450_71811460dup , CM000677.2:g.71811450_71811460dup GRCh38
NC_000015.9:g.72103790_72103800dup , CM000677.1:g.72103790_72103800dup GRCh37
NC_000015.8:g.69890844_69890854dup NCBI36
NG_009113.2:g.5896_5906dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.119-33_119-23dup MANE Select ENSP00000482504.1:n.119-33_119-23dup
ENST00000617575.4:c.119-33_119-23dup ENSP00000482504.1:n.119-33_119-23dup
ENST00000621098.1:c.119-33_119-23dup ENSP00000479962.1:n.119-33_119-23dup
ENST00000621736.4:c.-146-33_-146-23dup ENSP00000479254.1:n.-146-33_-146-23dup
NM_014249.3:c.119-33_119-23dup NP_055064.1:n.119-33_119-23dup
NM_016346.3:c.119-33_119-23dup NP_057430.1:n.119-33_119-23dup
XM_011521146.1:c.-146-33_-146-23dup XP_011519448.1:n.-146-33_-146-23dup
NM_014249.4:c.119-33_119-23dup MANE Select NP_055064.1:n.119-33_119-23dup
NM_016346.4:c.119-33_119-23dup NP_057430.1:n.119-33_119-23dup
Search 100 bp 5'
Search 100 bp 3'