Canonical Allele Identifier: CA7640198
Gene: NR2E3 HGNC NCBI

Linked Data

dbSNP Id: rs201237417
ExAC: 15:72103779 C / CGGCCCAGCCCTGCCCT
gnomAD v2: 15-72103779-C-CGGCCCAGCCCTGCCCT
gnomAD v3: 15-71811439-C-CGGCCCAGCCCTGCCCT
gnomAD v4: 15-71811439-C-CGGCCCAGCCCTGCCCT
MyVariant Identifiers: chr15:g.72103795_72103796insGGCCCAGCCCTGCCCT (hg19) chr15:g.72103779_72103780insGGCCCAGCCCTGCCCT (hg19) chr15:g.71811455_71811456insGGCCCAGCCCTGCCCT (hg38) chr15:g.71811439_71811440insGGCCCAGCCCTGCCCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811455_71811470dup , CM000677.2:g.71811455_71811470dup GRCh38
NC_000015.9:g.72103795_72103810dup , CM000677.1:g.72103795_72103810dup GRCh37
NC_000015.8:g.69890849_69890864dup NCBI36
NG_009113.2:g.5901_5916dup

Transcript Alleles

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