Canonical Allele Identifier: CA2741440544

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811778_71811779del , CM000677.2:g.71811778_71811779del	GRCh38
NC_000015.9:g.72104118_72104119del , CM000677.1:g.72104118_72104119del	GRCh37
NC_000015.8:g.69891172_69891173del	NCBI36
NG_009113.2:g.6224_6225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.258_259del MANE Select	ENSP00000482504.1:p.Ala87ArgfsTer?
ENST00000617575.4:c.258_259del	ENSP00000482504.1:p.Ala87ArgfsTer?
ENST00000621098.1:c.258_259del	ENSP00000479962.1:p.Ala87ArgfsTer?
ENST00000621736.4:c.-7_-6del	ENSP00000479254.1:n.-7_-6del
NM_014249.3:c.258_259del	NP_055064.1:p.Ala87ArgfsTer?
NM_016346.3:c.258_259del	NP_057430.1:p.Ala87ArgfsTer?
XM_011521146.1:c.-7_-6del	XP_011519448.1:n.-7_-6del
NM_014249.4:c.258_259del MANE Select	NP_055064.1:p.Ala87ArgfsTer?
NM_016346.4:c.258_259del	NP_057430.1:p.Ala87ArgfsTer?