Canonical Allele Identifier: CA2575777599

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811580del , CM000677.2:g.71811580del	GRCh38
NC_000015.9:g.72103920del , CM000677.1:g.72103920del	GRCh37
NC_000015.8:g.69890974del	NCBI36
NG_009113.2:g.6026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.216del MANE Select	ENSP00000482504.1:p.Arg73GlyfsTer?
ENST00000617575.4:c.216del	ENSP00000482504.1:p.Arg73GlyfsTer?
ENST00000621098.1:c.216del	ENSP00000479962.1:p.Arg73GlyfsTer?
ENST00000621736.4:c.-49del	ENSP00000479254.1:n.-49del
NM_014249.3:c.216del	NP_055064.1:p.Arg73GlyfsTer?
NM_016346.3:c.216del	NP_057430.1:p.Arg73GlyfsTer?
XM_011521146.1:c.-49del	XP_011519448.1:n.-49del
NM_014249.4:c.216del MANE Select	NP_055064.1:p.Arg73GlyfsTer?
NM_016346.4:c.216del	NP_057430.1:p.Arg73GlyfsTer?