Canonical Allele Identifier: CA891844159

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 5531
• ClinVar RCV Id: RCV000005868
• dbSNP Id: rs1567159701
• MyVariant Identifiers: chr15:g.72103904_72103912del (hg19) ; chr15:g.71811564_71811572del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811564_71811572del , CM000677.2:g.71811564_71811572del	GRCh38
NC_000015.9:g.72103904_72103912del , CM000677.1:g.72103904_72103912del	GRCh37
NC_000015.8:g.69890958_69890966del	NCBI36
NG_009113.2:g.6010_6018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.200_208del MANE Select	ENSP00000482504.1:p.Cys67_Gly69del
ENST00000617575.4:c.200_208del	ENSP00000482504.1:p.Cys67_Gly69del
ENST00000621098.1:c.200_208del	ENSP00000479962.1:p.Cys67_Gly69del
ENST00000621736.4:c.-65_-57del	ENSP00000479254.1:n.-65_-57del
NM_014249.3:c.200_208del	NP_055064.1:p.Cys67_Gly69del
NM_016346.3:c.200_208del	NP_057430.1:p.Cys67_Gly69del
XM_011521146.1:c.-65_-57del	XP_011519448.1:n.-65_-57del
NM_014249.4:c.200_208del MANE Select	NP_055064.1:p.Cys67_Gly69del
NM_016346.4:c.200_208del	NP_057430.1:p.Cys67_Gly69del