Canonical Allele Identifier: CA2629291520
Gene: NR2E3 HGNC NCBI

Linked Data

gnomAD v4: 15-71811462-GCCCTGCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811472_71811478del , CM000677.2:g.71811472_71811478del GRCh38
NC_000015.9:g.72103812_72103818del , CM000677.1:g.72103812_72103818del GRCh37
NC_000015.8:g.69890866_69890872del NCBI36
NG_009113.2:g.5918_5924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.119-11_119-5del MANE Select ENSP00000482504.1:n.119-11_119-5del
ENST00000617575.4:c.119-11_119-5del ENSP00000482504.1:n.119-11_119-5del
ENST00000621098.1:c.119-11_119-5del ENSP00000479962.1:n.119-11_119-5del
ENST00000621736.4:c.-146-11_-146-5del ENSP00000479254.1:n.-146-11_-146-5del
NM_014249.3:c.119-11_119-5del NP_055064.1:n.119-11_119-5del
NM_016346.3:c.119-11_119-5del NP_057430.1:n.119-11_119-5del
XM_011521146.1:c.-146-11_-146-5del XP_011519448.1:n.-146-11_-146-5del
NM_014249.4:c.119-11_119-5del MANE Select NP_055064.1:n.119-11_119-5del
NM_016346.4:c.119-11_119-5del NP_057430.1:n.119-11_119-5del
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