Canonical Allele Identifier: CA2629291472
Gene: NR2E3 HGNC NCBI

Linked Data

gnomAD v4: 15-71811427-GCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811440_71811471del , CM000677.2:g.71811440_71811471del GRCh38
NC_000015.9:g.72103780_72103811del , CM000677.1:g.72103780_72103811del GRCh37
NC_000015.8:g.69890834_69890865del NCBI36
NG_009113.2:g.5886_5917del

Transcript Alleles

HGVS Amino-acid change
ENST00000617575.5:c.119-43_119-12del MANE Select ENSP00000482504.1:n.119-43_119-12del
ENST00000617575.4:c.119-43_119-12del ENSP00000482504.1:n.119-43_119-12del
ENST00000621098.1:c.119-43_119-12del ENSP00000479962.1:n.119-43_119-12del
ENST00000621736.4:c.-146-43_-146-12del ENSP00000479254.1:n.-146-43_-146-12del
NM_014249.3:c.119-43_119-12del NP_055064.1:n.119-43_119-12del
NM_016346.3:c.119-43_119-12del NP_057430.1:n.119-43_119-12del
XM_011521146.1:c.-146-43_-146-12del XP_011519448.1:n.-146-43_-146-12del
NM_014249.4:c.119-43_119-12del MANE Select NP_055064.1:n.119-43_119-12del
NM_016346.4:c.119-43_119-12del NP_057430.1:n.119-43_119-12del
Search 100 bp 5'
Search 100 bp 3'