Canonical Allele Identifier: CA2788800887
Gene: RGR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84247768_84247769insACACCCAA , CM000672.2:g.84247768_84247769insACACCCAA GRCh38
NC_000010.10:g.86007524_86007525insACACCCAA , CM000672.1:g.86007524_86007525insACACCCAA GRCh37
NC_000010.9:g.85997504_85997505insACACCCAA NCBI36
NG_009106.1:g.7716_7717insACACCCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000358110.7:c.236+21_236+22insACACCCAA ENSP00000350823.5:n.236+21_236+22insACACCCAA
ENST00000359452.9:c.236+21_236+22insACACCCAA ENSP00000352427.4:n.236+21_236+22insACACCCAA
ENST00000478727.6:c.*307+21_*307+22insACACCCAA ENSP00000498966.1:n.*307+21_*307+22insACACCCAA
ENST00000483744.6:c.236+21_236+22insACACCCAA ENSP00000498992.1:n.236+21_236+22insACACCCAA
ENST00000650682.1:c.-302+21_-302+22insACACCCAA ENSP00000498223.1:n.-302+21_-302+22insACACCCAA
ENST00000650774.1:c.186+21_186+22insACACCCAA ENSP00000498908.1:n.186+21_186+22insACACCCAA
ENST00000651155.1:c.236+21_236+22insACACCCAA ENSP00000499193.1:n.236+21_236+22insACACCCAA
ENST00000651237.1:c.-302+21_-302+22insACACCCAA ENSP00000498404.1:n.-302+21_-302+22insACACCCAA
ENST00000652073.1:c.-302+21_-302+22insACACCCAA ENSP00000498800.1:n.-302+21_-302+22insACACCCAA
ENST00000652092.2:c.236+21_236+22insACACCCAA MANE Select ENSP00000498299.1:n.236+21_236+22insACACCCAA
ENST00000652122.1:c.236+21_236+22insACACCCAA ENSP00000498917.1:n.236+21_236+22insACACCCAA
ENST00000652310.1:c.*164+21_*164+22insACACCCAA ENSP00000498927.1:n.*164+21_*164+22insACACCCAA
ENST00000358110.6:c.236+21_236+22insACACCCAA ENSP00000350823.5:n.236+21_236+22insACACCCAA
ENST00000359452.8:c.236+21_236+22insACACCCAA ENSP00000352427.4:n.236+21_236+22insACACCCAA
ENST00000372092.3:c.186+21_186+22insACACCCAA ENSP00000361164.3:n.186+21_186+22insACACCCAA
ENST00000469446.5:n.295_296insACACCCAA
ENST00000478727.5:n.274+21_274+22insACACCCAA
ENST00000483660.5:n.108-1154_108-1153insACACCCAA
ENST00000483744.5:n.43+21_43+22insACACCCAA
ENST00000483771.5:n.209_210insACACCCAA
NM_001012720.1:c.236+21_236+22insACACCCAA NP_001012738.1:n.236+21_236+22insACACCCAA
NM_001012722.1:c.236+21_236+22insACACCCAA NP_001012740.1:n.236+21_236+22insACACCCAA
NM_002921.3:c.236+21_236+22insACACCCAA NP_002912.2:n.236+21_236+22insACACCCAA
XM_011540028.1:c.263+21_263+22insACACCCAA XP_011538330.1:n.263+21_263+22insACACCCAA
XM_024448118.1:c.236+21_236+22insACACCCAA XP_024303886.1:n.236+21_236+22insACACCCAA
XR_002957005.1:n.1586+21_1586+22insACACCCAA
NM_001012720.2:c.236+21_236+22insACACCCAA MANE Select NP_001012738.1:n.236+21_236+22insACACCCAA
NM_001012722.2:c.236+21_236+22insACACCCAA NP_001012740.1:n.236+21_236+22insACACCCAA
NM_002921.4:c.236+21_236+22insACACCCAA NP_002912.2:n.236+21_236+22insACACCCAA