Canonical Allele Identifier: CA272574699
Gene: NR2E3 HGNC NCBI

Linked Data

dbSNP Id: rs773125638
gnomAD v2: 15-72103681-TG-T
gnomAD v3: 15-71811341-TG-T
gnomAD v4: 15-71811341-TG-T
MyVariant Identifiers: chr15:g.72103682del (hg19) chr15:g.71811342del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811343del , CM000677.2:g.71811343del GRCh38
NC_000015.9:g.72103683del , CM000677.1:g.72103683del GRCh37
NC_000015.8:g.69890737del NCBI36
NG_009113.2:g.5789del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.119-140del MANE Select ENSP00000482504.1:n.119-140del
ENST00000617575.4:c.119-140del ENSP00000482504.1:n.119-140del
ENST00000621098.1:c.119-140del ENSP00000479962.1:n.119-140del
ENST00000621736.4:c.-146-140del ENSP00000479254.1:n.-146-140del
NM_014249.3:c.119-140del NP_055064.1:n.119-140del
NM_016346.3:c.119-140del NP_057430.1:n.119-140del
XM_011521146.1:c.-146-140del XP_011519448.1:n.-146-140del
NM_014249.4:c.119-140del MANE Select NP_055064.1:n.119-140del
NM_016346.4:c.119-140del NP_057430.1:n.119-140del
Search 100 bp 5'
Search 100 bp 3'