Canonical Allele Identifier: CA2575777592
Gene: NR2E3 HGNC NCBI

Linked Data

gnomAD v4: 15-71811453-CCTGGCCCAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811455_71811463del , CM000677.2:g.71811455_71811463del GRCh38
NC_000015.9:g.72103795_72103803del , CM000677.1:g.72103795_72103803del GRCh37
NC_000015.8:g.69890849_69890857del NCBI36
NG_009113.2:g.5901_5909del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.119-28_119-20del MANE Select ENSP00000482504.1:n.119-28_119-20del
ENST00000617575.4:c.119-28_119-20del ENSP00000482504.1:n.119-28_119-20del
ENST00000621098.1:c.119-28_119-20del ENSP00000479962.1:n.119-28_119-20del
ENST00000621736.4:c.-146-28_-146-20del ENSP00000479254.1:n.-146-28_-146-20del
NM_014249.3:c.119-28_119-20del NP_055064.1:n.119-28_119-20del
NM_016346.3:c.119-28_119-20del NP_057430.1:n.119-28_119-20del
XM_011521146.1:c.-146-28_-146-20del XP_011519448.1:n.-146-28_-146-20del
NM_014249.4:c.119-28_119-20del MANE Select NP_055064.1:n.119-28_119-20del
NM_016346.4:c.119-28_119-20del NP_057430.1:n.119-28_119-20del
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