Canonical Allele Identifier: CA2788800936
Gene: RGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84247833_84247843del , CM000672.2:g.84247833_84247843del GRCh38
NC_000010.10:g.86007589_86007599del , CM000672.1:g.86007589_86007599del GRCh37
NC_000010.9:g.85997569_85997579del NCBI36
NG_009106.1:g.7781_7791del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358110.7:c.236+86_236+96del ENSP00000350823.5:n.236+86_236+96del
ENST00000359452.9:c.236+86_236+96del ENSP00000352427.4:n.236+86_236+96del
ENST00000478727.6:c.*307+86_*307+96del ENSP00000498966.1:n.*307+86_*307+96del
ENST00000483744.6:c.236+86_236+96del ENSP00000498992.1:n.236+86_236+96del
ENST00000650682.1:c.-302+86_-302+96del ENSP00000498223.1:n.-302+86_-302+96del
ENST00000650774.1:c.186+86_186+96del ENSP00000498908.1:n.186+86_186+96del
ENST00000651155.1:c.236+86_236+96del ENSP00000499193.1:n.236+86_236+96del
ENST00000651237.1:c.-302+86_-302+96del ENSP00000498404.1:n.-302+86_-302+96del
ENST00000652073.1:c.-302+86_-302+96del ENSP00000498800.1:n.-302+86_-302+96del
ENST00000652092.2:c.236+86_236+96del MANE Select ENSP00000498299.1:n.236+86_236+96del
ENST00000652122.1:c.236+86_236+96del ENSP00000498917.1:n.236+86_236+96del
ENST00000652310.1:c.*164+86_*164+96del ENSP00000498927.1:n.*164+86_*164+96del
ENST00000358110.6:c.236+86_236+96del ENSP00000350823.5:n.236+86_236+96del
ENST00000359452.8:c.236+86_236+96del ENSP00000352427.4:n.236+86_236+96del
ENST00000372092.3:c.186+86_186+96del ENSP00000361164.3:n.186+86_186+96del
ENST00000469446.5:n.360_370del
ENST00000478727.5:n.274+86_274+96del
ENST00000483660.5:n.108-1089_108-1079del
ENST00000483744.5:n.43+86_43+96del
ENST00000483771.5:n.274_284del
NM_001012720.1:c.236+86_236+96del NP_001012738.1:n.236+86_236+96del
NM_001012722.1:c.236+86_236+96del NP_001012740.1:n.236+86_236+96del
NM_002921.3:c.236+86_236+96del NP_002912.2:n.236+86_236+96del
XM_011540028.1:c.263+86_263+96del XP_011538330.1:n.263+86_263+96del
XM_024448118.1:c.236+86_236+96del XP_024303886.1:n.236+86_236+96del
XR_002957005.1:n.1586+86_1586+96del
NM_001012720.2:c.236+86_236+96del MANE Select NP_001012738.1:n.236+86_236+96del
NM_001012722.2:c.236+86_236+96del NP_001012740.1:n.236+86_236+96del
NM_002921.4:c.236+86_236+96del NP_002912.2:n.236+86_236+96del