Canonical Allele Identifier: CA2186513716
Gene: NR2E3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811760_71811761delinsCT , CM000677.2:g.71811760_71811761delinsCT GRCh38
NC_000015.9:g.72104100_72104101delinsCT , CM000677.1:g.72104100_72104101delinsCT GRCh37
NC_000015.8:g.69891154_69891155delinsCT NCBI36
NG_009113.2:g.6206_6207delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.246-6_246-5delinsCT MANE Select ENSP00000482504.1:n.246-6_246-5delinsCT
ENST00000617575.4:c.246-6_246-5delinsCT ENSP00000482504.1:n.246-6_246-5delinsCT
ENST00000621098.1:c.246-6_246-5delinsCT ENSP00000479962.1:n.246-6_246-5delinsCT
ENST00000621736.4:c.-19-6_-19-5delinsCT ENSP00000479254.1:n.-19-6_-19-5delinsCT
NM_014249.3:c.246-6_246-5delinsCT NP_055064.1:n.246-6_246-5delinsCT
NM_016346.3:c.246-6_246-5delinsCT NP_057430.1:n.246-6_246-5delinsCT
XM_011521146.1:c.-19-6_-19-5delinsCT XP_011519448.1:n.-19-6_-19-5delinsCT
NM_014249.4:c.246-6_246-5delinsCT MANE Select NP_055064.1:n.246-6_246-5delinsCT
NM_016346.4:c.246-6_246-5delinsCT NP_057430.1:n.246-6_246-5delinsCT