Canonical Allele Identifier: CA2609963460
Gene: RGR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84247530_84247531del , CM000672.2:g.84247530_84247531del GRCh38
NC_000010.10:g.86007286_86007287del , CM000672.1:g.86007286_86007287del GRCh37
NC_000010.9:g.85997266_85997267del NCBI36
NG_009106.1:g.7478_7479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358110.7:c.80-61_80-60del ENSP00000350823.5:n.80-61_80-60del
ENST00000359452.9:c.80-61_80-60del ENSP00000352427.4:n.80-61_80-60del
ENST00000478727.6:c.*90_*91del ENSP00000498966.1:n.*90_*91del
ENST00000483744.6:c.80-61_80-60del ENSP00000498992.1:n.80-61_80-60del
ENST00000650682.1:c.-519_-518del ENSP00000498223.1:n.-519_-518del
ENST00000650774.1:c.80-111_80-110del ENSP00000498908.1:n.80-111_80-110del
ENST00000651155.1:c.80-61_80-60del ENSP00000499193.1:n.80-61_80-60del
ENST00000651237.1:c.-519_-518del ENSP00000498404.1:n.-519_-518del
ENST00000652073.1:c.-458-61_-458-60del ENSP00000498800.1:n.-458-61_-458-60del
ENST00000652092.2:c.80-61_80-60del MANE Select ENSP00000498299.1:n.80-61_80-60del
ENST00000652122.1:c.80-61_80-60del ENSP00000498917.1:n.80-61_80-60del
ENST00000652310.1:c.*58-111_*58-110del ENSP00000498927.1:n.*58-111_*58-110del
ENST00000358110.6:c.80-61_80-60del ENSP00000350823.5:n.80-61_80-60del
ENST00000359452.8:c.80-61_80-60del ENSP00000352427.4:n.80-61_80-60del
ENST00000372092.3:c.80-111_80-110del ENSP00000361164.3:n.80-111_80-110del
ENST00000469446.5:n.118-61_118-60del
ENST00000478727.5:n.118-61_118-60del
ENST00000483660.5:n.108-1392_108-1391del
ENST00000483771.5:n.82-111_82-110del
NM_001012720.1:c.80-61_80-60del NP_001012738.1:n.80-61_80-60del
NM_001012722.1:c.80-61_80-60del NP_001012740.1:n.80-61_80-60del
NM_002921.3:c.80-61_80-60del NP_002912.2:n.80-61_80-60del
XM_011540028.1:c.107-61_107-60del XP_011538330.1:n.107-61_107-60del
XM_024448118.1:c.80-61_80-60del XP_024303886.1:n.80-61_80-60del
XR_002957005.1:n.1430-61_1430-60del
NM_001012720.2:c.80-61_80-60del MANE Select NP_001012738.1:n.80-61_80-60del
NM_001012722.2:c.80-61_80-60del NP_001012740.1:n.80-61_80-60del
NM_002921.4:c.80-61_80-60del NP_002912.2:n.80-61_80-60del