Canonical Allele Identifier: CA618960739
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 966126
ClinVar RCV Id: RCV001240724
dbSNP Id: rs1379952962
gnomAD v2: 15-72103910-GCTT-G
gnomAD v4: 15-71811570-GCTT-G
MyVariant Identifiers: chr15:g.72103911_72103913del (hg19) chr15:g.71811571_71811573del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811575_71811577del , CM000677.2:g.71811575_71811577del GRCh38
NC_000015.9:g.72103915_72103917del , CM000677.1:g.72103915_72103917del GRCh37
NC_000015.8:g.69890969_69890971del NCBI36
NG_009113.2:g.6021_6023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.211_213del MANE Select ENSP00000482504.1:p.Phe71del
ENST00000617575.4:c.211_213del ENSP00000482504.1:p.Phe71del
ENST00000621098.1:c.211_213del ENSP00000479962.1:p.Phe71del
ENST00000621736.4:c.-54_-52del ENSP00000479254.1:n.-54_-52del
NM_014249.3:c.211_213del NP_055064.1:p.Phe71del
NM_016346.3:c.211_213del NP_057430.1:p.Phe71del
XM_011521146.1:c.-54_-52del XP_011519448.1:n.-54_-52del
NM_014249.4:c.211_213del MANE Select NP_055064.1:p.Phe71del
NM_016346.4:c.211_213del NP_057430.1:p.Phe71del
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