Canonical Allele Identifier: CA2186513579

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054179996
• gnomAD v4: 15-71811519-ACAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811527_71811529del , CM000677.2:g.71811527_71811529del	GRCh38
NC_000015.9:g.72103867_72103869del , CM000677.1:g.72103867_72103869del	GRCh37
NC_000015.8:g.69890921_69890923del	NCBI36
NG_009113.2:g.5973_5975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.163_165del MANE Select	ENSP00000482504.1:p.Ser55del
ENST00000617575.4:c.163_165del	ENSP00000482504.1:p.Ser55del
ENST00000621098.1:c.163_165del	ENSP00000479962.1:p.Ser55del
ENST00000621736.4:c.-102_-100del	ENSP00000479254.1:n.-102_-100del
NM_014249.3:c.163_165del	NP_055064.1:p.Ser55del
NM_016346.3:c.163_165del	NP_057430.1:p.Ser55del
XM_011521146.1:c.-102_-100del	XP_011519448.1:n.-102_-100del
NM_014249.4:c.163_165del MANE Select	NP_055064.1:p.Ser55del
NM_016346.4:c.163_165del	NP_057430.1:p.Ser55del