Canonical Allele Identifier: CA2580089924

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 2006461
• ClinVar RCV Id: RCV002837759

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811612_71811636del , CM000677.2:g.71811612_71811636del	GRCh38
NC_000015.9:g.72103952_72103976del , CM000677.1:g.72103952_72103976del	GRCh37
NC_000015.8:g.69891006_69891030del	NCBI36
NG_009113.2:g.6058_6082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.245+3_245+27del MANE Select	ENSP00000482504.1:n.245+3_245+27del
ENST00000617575.4:c.245+3_245+27del	ENSP00000482504.1:n.245+3_245+27del
ENST00000621098.1:c.245+3_245+27del	ENSP00000479962.1:n.245+3_245+27del
ENST00000621736.4:c.-20+3_-20+27del	ENSP00000479254.1:n.-20+3_-20+27del
NM_014249.3:c.245+3_245+27del	NP_055064.1:n.245+3_245+27del
NM_016346.3:c.245+3_245+27del	NP_057430.1:n.245+3_245+27del
XM_011521146.1:c.-20+3_-20+27del	XP_011519448.1:n.-20+3_-20+27del
NM_014249.4:c.245+3_245+27del MANE Select	NP_055064.1:n.245+3_245+27del
NM_016346.4:c.245+3_245+27del	NP_057430.1:n.245+3_245+27del