Canonical Allele Identifier: CA971316657

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 1982909
• ClinVar RCV Id: RCV002766915
• dbSNP Id: rs2054178650
• gnomAD v3: 15-71811452-CCCTGGCCCAGCCCTG-C
• gnomAD v4: 15-71811452-CCCTGGCCCAGCCCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811455_71811469del , CM000677.2:g.71811455_71811469del	GRCh38
NC_000015.9:g.72103795_72103809del , CM000677.1:g.72103795_72103809del	GRCh37
NC_000015.8:g.69890849_69890863del	NCBI36
NG_009113.2:g.5901_5915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-28_119-14del MANE Select	ENSP00000482504.1:n.119-28_119-14del
ENST00000617575.4:c.119-28_119-14del	ENSP00000482504.1:n.119-28_119-14del
ENST00000621098.1:c.119-28_119-14del	ENSP00000479962.1:n.119-28_119-14del
ENST00000621736.4:c.-146-28_-146-14del	ENSP00000479254.1:n.-146-28_-146-14del
NM_014249.3:c.119-28_119-14del	NP_055064.1:n.119-28_119-14del
NM_016346.3:c.119-28_119-14del	NP_057430.1:n.119-28_119-14del
XM_011521146.1:c.-146-28_-146-14del	XP_011519448.1:n.-146-28_-146-14del
NM_014249.4:c.119-28_119-14del MANE Select	NP_055064.1:n.119-28_119-14del
NM_016346.4:c.119-28_119-14del	NP_057430.1:n.119-28_119-14del