Canonical Allele Identifier: CA1924470103
Gene: RGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84247795_84247842delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT , CM000672.2:g.84247795_84247842delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT GRCh38
NC_000010.10:g.86007551_86007598delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT , CM000672.1:g.86007551_86007598delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT GRCh37
NC_000010.9:g.85997531_85997578delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT NCBI36
NG_009106.1:g.7743_7790delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000358110.7:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000350823.5:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCA...
ENST00000359452.9:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000352427.4:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCA...
ENST00000478727.6:c.*307+48_*307+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000498966.1:n.*307+48_*307+95delinsCCTGACCCCTGGGCCCTGGG...
ENST00000483744.6:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000498992.1:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCA...
ENST00000650682.1:c.-302+48_-302+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000498223.1:n.-302+48_-302+95delinsCCTGACCCCTGGGCCCTGGG...
ENST00000650774.1:c.186+48_186+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000498908.1:n.186+48_186+95delinsCCTGACCCCTGGGCCCTGGGCA...
ENST00000651155.1:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000499193.1:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCA...
ENST00000651237.1:c.-302+48_-302+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000498404.1:n.-302+48_-302+95delinsCCTGACCCCTGGGCCCTGGG...
ENST00000652073.1:c.-302+48_-302+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000498800.1:n.-302+48_-302+95delinsCCTGACCCCTGGGCCCTGGG...
ENST00000652092.2:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT MANE Select ENSP00000498299.1:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCA...
ENST00000652122.1:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000498917.1:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCA...
ENST00000652310.1:c.*164+48_*164+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000498927.1:n.*164+48_*164+95delinsCCTGACCCCTGGGCCCTGGG...
ENST00000358110.6:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000350823.5:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCA...
ENST00000359452.8:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000352427.4:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCA...
ENST00000372092.3:c.186+48_186+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT ENSP00000361164.3:n.186+48_186+95delinsCCTGACCCCTGGGCCCTGGGCA...
ENST00000469446.5:n.322_369delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT
ENST00000478727.5:n.274+48_274+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT
ENST00000483660.5:n.108-1127_108-1080delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT
ENST00000483744.5:n.43+48_43+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT
ENST00000483771.5:n.236_283delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT
NM_001012720.1:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT NP_001012738.1:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCC...
NM_001012722.1:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT NP_001012740.1:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCC...
NM_002921.3:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT NP_002912.2:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGG...
XM_011540028.1:c.263+48_263+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT XP_011538330.1:n.263+48_263+95delinsCCTGACCCCTGGGCCCTGGGCAGCC...
XM_024448118.1:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT XP_024303886.1:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCC...
XR_002957005.1:n.1586+48_1586+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT
NM_001012720.2:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT MANE Select NP_001012738.1:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCC...
NM_001012722.2:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT NP_001012740.1:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCC...
NM_002921.4:c.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGGCCAAGGGCATTTTTACTACT NP_002912.2:n.236+48_236+95delinsCCTGACCCCTGGGCCCTGGGCAGCCAGG...