Canonical Allele Identifier: CA2186513598
Gene: NR2E3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811552_71811561delinsCCTGCAACGG , CM000677.2:g.71811552_71811561delinsCCTGCAACGG GRCh38
NC_000015.9:g.72103892_72103901delinsCCTGCAACGG , CM000677.1:g.72103892_72103901delinsCCTGCAACGG GRCh37
NC_000015.8:g.69890946_69890955delinsCCTGCAACGG NCBI36
NG_009113.2:g.5998_6007delinsCCTGCAACGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.188_197delinsCCTGCAACGG MANE Select ENSP00000482504.1:p.Ala63=
ENST00000617575.4:c.188_197delinsCCTGCAACGG ENSP00000482504.1:p.Ala63=
ENST00000621098.1:c.188_197delinsCCTGCAACGG ENSP00000479962.1:p.Ala63=
ENST00000621736.4:c.-77_-68delinsCCTGCAACGG ENSP00000479254.1:n.-77_-68delinsCCTGCAACGG
NM_014249.3:c.188_197delinsCCTGCAACGG NP_055064.1:p.Ala63=
NM_016346.3:c.188_197delinsCCTGCAACGG NP_057430.1:p.Ala63=
XM_011521146.1:c.-77_-68delinsCCTGCAACGG XP_011519448.1:n.-77_-68delinsCCTGCAACGG
NM_014249.4:c.188_197delinsCCTGCAACGG MANE Select NP_055064.1:p.Ala63=
NM_016346.4:c.188_197delinsCCTGCAACGG NP_057430.1:p.Ala63=
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