Canonical Allele Identifier: CA2695197298

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 2632879
• ClinVar RCV Id: RCV004531612

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811559_71811566del , CM000677.2:g.71811559_71811566del	GRCh38
NC_000015.9:g.72103899_72103906del , CM000677.1:g.72103899_72103906del	GRCh37
NC_000015.8:g.69890953_69890960del	NCBI36
NG_009113.2:g.6005_6012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.195_202del MANE Select	ENSP00000482504.1:p.Asn65LysfsTer?
ENST00000617575.4:c.195_202del	ENSP00000482504.1:p.Asn65LysfsTer?
ENST00000621098.1:c.195_202del	ENSP00000479962.1:p.Asn65LysfsTer?
ENST00000621736.4:c.-70_-63del	ENSP00000479254.1:n.-70_-63del
NM_014249.3:c.195_202del	NP_055064.1:p.Asn65LysfsTer?
NM_016346.3:c.195_202del	NP_057430.1:p.Asn65LysfsTer?
XM_011521146.1:c.-70_-63del	XP_011519448.1:n.-70_-63del
NM_014249.4:c.195_202del MANE Select	NP_055064.1:p.Asn65LysfsTer?
NM_016346.4:c.195_202del	NP_057430.1:p.Asn65LysfsTer?