Canonical Allele Identifier: CA7640196
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 497704
ClinVar RCV Id: RCV000595923
dbSNP Id: rs201237417
ExAC: 15:72103779 CGGCCCAGCCCTGCCCT / C
gnomAD v2: 15-72103779-CGGCCCAGCCCTGCCCT-C
gnomAD v3: 15-71811439-CGGCCCAGCCCTGCCCT-C
gnomAD v4: 15-71811439-CGGCCCAGCCCTGCCCT-C
MyVariant Identifiers: chr15:g.72103795_72103810del (hg19) chr15:g.72103780_72103795del (hg19) chr15:g.71811455_71811470del (hg38) chr15:g.71811441_71811456del (hg38) chr15:g.71811440_71811455del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811455_71811470del , CM000677.2:g.71811455_71811470del GRCh38
NC_000015.9:g.72103795_72103810del , CM000677.1:g.72103795_72103810del GRCh37
NC_000015.8:g.69890849_69890864del NCBI36
NG_009113.2:g.5901_5916del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.119-28_119-13del MANE Select ENSP00000482504.1:n.119-28_119-13del
ENST00000617575.4:c.119-28_119-13del ENSP00000482504.1:n.119-28_119-13del
ENST00000621098.1:c.119-28_119-13del ENSP00000479962.1:n.119-28_119-13del
ENST00000621736.4:c.-146-28_-146-13del ENSP00000479254.1:n.-146-28_-146-13del
NM_014249.3:c.119-28_119-13del NP_055064.1:n.119-28_119-13del
NM_016346.3:c.119-28_119-13del NP_057430.1:n.119-28_119-13del
XM_011521146.1:c.-146-28_-146-13del XP_011519448.1:n.-146-28_-146-13del
NM_014249.4:c.119-28_119-13del MANE Select NP_055064.1:n.119-28_119-13del
NM_016346.4:c.119-28_119-13del NP_057430.1:n.119-28_119-13del
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