Canonical Allele Identifier: CA2186513574

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054179902

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811514_71811515del , CM000677.2:g.71811514_71811515del	GRCh38
NC_000015.9:g.72103854_72103855del , CM000677.1:g.72103854_72103855del	GRCh37
NC_000015.8:g.69890908_69890909del	NCBI36
NG_009113.2:g.5960_5961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.150_151del MANE Select	ENSP00000482504.1:p.Cys50TrpfsTer?
ENST00000617575.4:c.150_151del	ENSP00000482504.1:p.Cys50TrpfsTer?
ENST00000621098.1:c.150_151del	ENSP00000479962.1:p.Cys50TrpfsTer?
ENST00000621736.4:c.-115_-114del	ENSP00000479254.1:n.-115_-114del
NM_014249.3:c.150_151del	NP_055064.1:p.Cys50TrpfsTer?
NM_016346.3:c.150_151del	NP_057430.1:p.Cys50TrpfsTer?
XM_011521146.1:c.-115_-114del	XP_011519448.1:n.-115_-114del
NM_014249.4:c.150_151del MANE Select	NP_055064.1:p.Cys50TrpfsTer?
NM_016346.4:c.150_151del	NP_057430.1:p.Cys50TrpfsTer?