Canonical Allele Identifier: CA2609963582

Gene: RGR

Linked Data

• gnomAD v4: 10-84247590-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247596_84247597del , CM000672.2:g.84247596_84247597del	GRCh38
NC_000010.10:g.86007352_86007353del , CM000672.1:g.86007352_86007353del	GRCh37
NC_000010.9:g.85997332_85997333del	NCBI36
NG_009106.1:g.7544_7545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.85_86del	ENSP00000350823.5:p.Ser29ArgfsTer?
ENST00000359452.9:c.85_86del	ENSP00000352427.4:p.Ser29ArgfsTer?
ENST00000478727.6:c.*156_*157del	ENSP00000498966.1:n.*156_*157del
ENST00000483744.6:c.85_86del	ENSP00000498992.1:p.Ser29ArgfsTer?
ENST00000650682.1:c.-453_-452del	ENSP00000498223.1:n.-453_-452del
ENST00000650774.1:c.80-45_80-44del	ENSP00000498908.1:n.80-45_80-44del
ENST00000651155.1:c.85_86del	ENSP00000499193.1:p.Ser29ArgfsTer?
ENST00000651237.1:c.-453_-452del	ENSP00000498404.1:n.-453_-452del
ENST00000652073.1:c.-453_-452del	ENSP00000498800.1:n.-453_-452del
ENST00000652092.2:c.85_86del MANE Select	ENSP00000498299.1:p.Ser29ArgfsTer?
ENST00000652122.1:c.85_86del	ENSP00000498917.1:p.Ser29ArgfsTer?
ENST00000652310.1:c.*58-45_*58-44del	ENSP00000498927.1:n.*58-45_*58-44del
ENST00000358110.6:c.85_86del	ENSP00000350823.5:p.Ser29ArgfsTer?
ENST00000359452.8:c.85_86del	ENSP00000352427.4:p.Ser29ArgfsTer?
ENST00000372092.3:c.80-45_80-44del	ENSP00000361164.3:n.80-45_80-44del
ENST00000469446.5:n.123_124del
ENST00000478727.5:n.123_124del
ENST00000483660.5:n.108-1326_108-1325del
ENST00000483771.5:n.82-45_82-44del
NM_001012720.1:c.85_86del	NP_001012738.1:p.Ser29ArgfsTer?
NM_001012722.1:c.85_86del	NP_001012740.1:p.Ser29ArgfsTer?
NM_002921.3:c.85_86del	NP_002912.2:p.Ser29ArgfsTer?
XM_011540028.1:c.112_113del	XP_011538330.1:p.Ser38ArgfsTer?
XM_024448118.1:c.85_86del	XP_024303886.1:p.Ser29ArgfsTer?
XR_002957005.1:n.1435_1436del
NM_001012720.2:c.85_86del MANE Select	NP_001012738.1:p.Ser29ArgfsTer?
NM_001012722.2:c.85_86del	NP_001012740.1:p.Ser29ArgfsTer?
NM_002921.4:c.85_86del	NP_002912.2:p.Ser29ArgfsTer?