Canonical Allele Identifier: CA2573151140

Gene: NR2E3

Linked Data

• dbSNP Id: rs2140288763

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811559_71811560insTATGGCATCTA , CM000677.2:g.71811559_71811560insTATGGCATCTA	GRCh38
NC_000015.9:g.72103899_72103900insTATGGCATCTA , CM000677.1:g.72103899_72103900insTATGGCATCTA	GRCh37
NC_000015.8:g.69890953_69890954insTATGGCATCTA	NCBI36
NG_009113.2:g.6005_6006insTATGGCATCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.195_196insTATGGCATCTA MANE Select	ENSP00000482504.1:p.Gly66TyrfsTer4
ENST00000617575.4:c.195_196insTATGGCATCTA	ENSP00000482504.1:p.Gly66TyrfsTer4
ENST00000621098.1:c.195_196insTATGGCATCTA	ENSP00000479962.1:p.Gly66TyrfsTer4
ENST00000621736.4:c.-70_-69insTATGGCATCTA	ENSP00000479254.1:n.-70_-69insTATGGCATCTA
NM_014249.3:c.195_196insTATGGCATCTA	NP_055064.1:p.Gly66TyrfsTer4
NM_016346.3:c.195_196insTATGGCATCTA	NP_057430.1:p.Gly66TyrfsTer4
XM_011521146.1:c.-70_-69insTATGGCATCTA	XP_011519448.1:n.-70_-69insTATGGCATCTA
NM_014249.4:c.195_196insTATGGCATCTA MANE Select	NP_055064.1:p.Gly66TyrfsTer4
NM_016346.4:c.195_196insTATGGCATCTA	NP_057430.1:p.Gly66TyrfsTer4