Canonical Allele Identifier: CA5581327

Gene: RGR

Linked Data

• ClinVar Variation Id: 1381115
• ClinVar RCV Id: RCV001895204
• dbSNP Id: rs751615944
• ExAC: 10:86007477 CG / C
• gnomAD v2: 10-86007477-CG-C
• gnomAD v3: 10-84247721-CG-C
• gnomAD v4: 10-84247721-CG-C
• MyVariant Identifiers: chr10:g.86007478del (hg19) ; chr10:g.84247722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247722del , CM000672.2:g.84247722del	GRCh38
NC_000010.10:g.86007478del , CM000672.1:g.86007478del	GRCh37
NC_000010.9:g.85997458del	NCBI36
NG_009106.1:g.7670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.211del	ENSP00000350823.5:p.Val71LeufsTer27
ENST00000359452.9:c.211del	ENSP00000352427.4:p.Val71LeufsTer?
ENST00000478727.6:c.*282del	ENSP00000498966.1:n.*282del
ENST00000483744.6:c.211del	ENSP00000498992.1:p.Val71LeufsTer27
ENST00000650682.1:c.-327del	ENSP00000498223.1:n.-327del
ENST00000650774.1:c.161del	ENSP00000498908.1:p.Arg54LeufsTer?
ENST00000651155.1:c.211del	ENSP00000499193.1:p.Val71LeufsTer27
ENST00000651237.1:c.-327del	ENSP00000498404.1:n.-327del
ENST00000652073.1:c.-327del	ENSP00000498800.1:n.-327del
ENST00000652092.2:c.211del MANE Select	ENSP00000498299.1:p.Val71LeufsTer27
ENST00000652122.1:c.211del	ENSP00000498917.1:p.Val71LeufsTer?
ENST00000652310.1:c.*139del	ENSP00000498927.1:n.*139del
ENST00000358110.6:c.211del	ENSP00000350823.5:p.Val71LeufsTer27
ENST00000359452.8:c.211del	ENSP00000352427.4:p.Val71LeufsTer?
ENST00000372092.3:c.161del	ENSP00000361164.3:p.Arg54LeufsTer?
ENST00000469446.5:n.249del
ENST00000478727.5:n.249del
ENST00000483660.5:n.108-1200del
ENST00000483744.5:n.18del
ENST00000483771.5:n.163del
NM_001012720.1:c.211del	NP_001012738.1:p.Val71LeufsTer27
NM_001012722.1:c.211del	NP_001012740.1:p.Val71LeufsTer27
NM_002921.3:c.211del	NP_002912.2:p.Val71LeufsTer?
XM_011540028.1:c.238del	XP_011538330.1:p.Val80LeufsTer27
XM_024448118.1:c.211del	XP_024303886.1:p.Val71LeufsTer27
XR_002957005.1:n.1561del
NM_001012720.2:c.211del MANE Select	NP_001012738.1:p.Val71LeufsTer27
NM_001012722.2:c.211del	NP_001012740.1:p.Val71LeufsTer27
NM_002921.4:c.211del	NP_002912.2:p.Val71LeufsTer?