Canonical Allele Identifier: CA2788800922
Gene: RGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84247821_84247836del , CM000672.2:g.84247821_84247836del GRCh38
NC_000010.10:g.86007577_86007592del , CM000672.1:g.86007577_86007592del GRCh37
NC_000010.9:g.85997557_85997572del NCBI36
NG_009106.1:g.7769_7784del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358110.7:c.236+74_236+89del ENSP00000350823.5:n.236+74_236+89del
ENST00000359452.9:c.236+74_236+89del ENSP00000352427.4:n.236+74_236+89del
ENST00000478727.6:c.*307+74_*307+89del ENSP00000498966.1:n.*307+74_*307+89del
ENST00000483744.6:c.236+74_236+89del ENSP00000498992.1:n.236+74_236+89del
ENST00000650682.1:c.-302+74_-302+89del ENSP00000498223.1:n.-302+74_-302+89del
ENST00000650774.1:c.186+74_186+89del ENSP00000498908.1:n.186+74_186+89del
ENST00000651155.1:c.236+74_236+89del ENSP00000499193.1:n.236+74_236+89del
ENST00000651237.1:c.-302+74_-302+89del ENSP00000498404.1:n.-302+74_-302+89del
ENST00000652073.1:c.-302+74_-302+89del ENSP00000498800.1:n.-302+74_-302+89del
ENST00000652092.2:c.236+74_236+89del MANE Select ENSP00000498299.1:n.236+74_236+89del
ENST00000652122.1:c.236+74_236+89del ENSP00000498917.1:n.236+74_236+89del
ENST00000652310.1:c.*164+74_*164+89del ENSP00000498927.1:n.*164+74_*164+89del
ENST00000358110.6:c.236+74_236+89del ENSP00000350823.5:n.236+74_236+89del
ENST00000359452.8:c.236+74_236+89del ENSP00000352427.4:n.236+74_236+89del
ENST00000372092.3:c.186+74_186+89del ENSP00000361164.3:n.186+74_186+89del
ENST00000469446.5:n.348_363del
ENST00000478727.5:n.274+74_274+89del
ENST00000483660.5:n.108-1101_108-1086del
ENST00000483744.5:n.43+74_43+89del
ENST00000483771.5:n.262_277del
NM_001012720.1:c.236+74_236+89del NP_001012738.1:n.236+74_236+89del
NM_001012722.1:c.236+74_236+89del NP_001012740.1:n.236+74_236+89del
NM_002921.3:c.236+74_236+89del NP_002912.2:n.236+74_236+89del
XM_011540028.1:c.263+74_263+89del XP_011538330.1:n.263+74_263+89del
XM_024448118.1:c.236+74_236+89del XP_024303886.1:n.236+74_236+89del
XR_002957005.1:n.1586+74_1586+89del
NM_001012720.2:c.236+74_236+89del MANE Select NP_001012738.1:n.236+74_236+89del
NM_001012722.2:c.236+74_236+89del NP_001012740.1:n.236+74_236+89del
NM_002921.4:c.236+74_236+89del NP_002912.2:n.236+74_236+89del