Canonical Allele Identifier: CA2695220966
Gene: NR2E3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811560_71811565del , CM000677.2:g.71811560_71811565del GRCh38
NC_000015.9:g.72103900_72103905del , CM000677.1:g.72103900_72103905del GRCh37
NC_000015.8:g.69890954_69890959del NCBI36
NG_009113.2:g.6006_6011del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.196_201del MANE Select ENSP00000482504.1:p.Gly66_Cys67del
ENST00000617575.4:c.196_201del ENSP00000482504.1:p.Gly66_Cys67del
ENST00000621098.1:c.196_201del ENSP00000479962.1:p.Gly66_Cys67del
ENST00000621736.4:c.-69_-64del ENSP00000479254.1:n.-69_-64del
NM_014249.3:c.196_201del NP_055064.1:p.Gly66_Cys67del
NM_016346.3:c.196_201del NP_057430.1:p.Gly66_Cys67del
XM_011521146.1:c.-69_-64del XP_011519448.1:n.-69_-64del
NM_014249.4:c.196_201del MANE Select NP_055064.1:p.Gly66_Cys67del
NM_016346.4:c.196_201del NP_057430.1:p.Gly66_Cys67del