Canonical Allele Identifier: CA2609963647

Gene: RGR

Linked Data

• gnomAD v4: 10-84247625-CTTCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247630_84247635del , CM000672.2:g.84247630_84247635del	GRCh38
NC_000010.10:g.86007386_86007391del , CM000672.1:g.86007386_86007391del	GRCh37
NC_000010.9:g.85997366_85997371del	NCBI36
NG_009106.1:g.7578_7583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.119_124del	ENSP00000350823.5:p.Ser40_Phe41del
ENST00000359452.9:c.119_124del	ENSP00000352427.4:p.Ser40_Phe41del
ENST00000478727.6:c.*190_*195del	ENSP00000498966.1:n.*190_*195del
ENST00000483744.6:c.119_124del	ENSP00000498992.1:p.Ser40_Phe41del
ENST00000650682.1:c.-419_-414del	ENSP00000498223.1:n.-419_-414del
ENST00000650774.1:c.80-11_80-6del	ENSP00000498908.1:n.80-11_80-6del
ENST00000651155.1:c.119_124del	ENSP00000499193.1:p.Ser40_Phe41del
ENST00000651237.1:c.-419_-414del	ENSP00000498404.1:n.-419_-414del
ENST00000652073.1:c.-419_-414del	ENSP00000498800.1:n.-419_-414del
ENST00000652092.2:c.119_124del MANE Select	ENSP00000498299.1:p.Ser40_Phe41del
ENST00000652122.1:c.119_124del	ENSP00000498917.1:p.Ser40_Phe41del
ENST00000652310.1:c.*58-11_*58-6del	ENSP00000498927.1:n.*58-11_*58-6del
ENST00000358110.6:c.119_124del	ENSP00000350823.5:p.Ser40_Phe41del
ENST00000359452.8:c.119_124del	ENSP00000352427.4:p.Ser40_Phe41del
ENST00000372092.3:c.80-11_80-6del	ENSP00000361164.3:n.80-11_80-6del
ENST00000469446.5:n.157_162del
ENST00000478727.5:n.157_162del
ENST00000483660.5:n.108-1292_108-1287del
ENST00000483771.5:n.82-11_82-6del
NM_001012720.1:c.119_124del	NP_001012738.1:p.Ser40_Phe41del
NM_001012722.1:c.119_124del	NP_001012740.1:p.Ser40_Phe41del
NM_002921.3:c.119_124del	NP_002912.2:p.Ser40_Phe41del
XM_011540028.1:c.146_151del	XP_011538330.1:p.Ser49_Phe50del
XM_024448118.1:c.119_124del	XP_024303886.1:p.Ser40_Phe41del
XR_002957005.1:n.1469_1474del
NM_001012720.2:c.119_124del MANE Select	NP_001012738.1:p.Ser40_Phe41del
NM_001012722.2:c.119_124del	NP_001012740.1:p.Ser40_Phe41del
NM_002921.4:c.119_124del	NP_002912.2:p.Ser40_Phe41del