Canonical Allele Identifier: CA2788800874

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247722_84247730del , CM000672.2:g.84247722_84247730del	GRCh38
NC_000010.10:g.86007478_86007486del , CM000672.1:g.86007478_86007486del	GRCh37
NC_000010.9:g.85997458_85997466del	NCBI36
NG_009106.1:g.7670_7678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.211_219del	ENSP00000350823.5:p.Val71_Ala73del
ENST00000359452.9:c.211_219del	ENSP00000352427.4:p.Val71_Ala73del
ENST00000478727.6:c.*282_*290del	ENSP00000498966.1:n.*282_*290del
ENST00000483744.6:c.211_219del	ENSP00000498992.1:p.Val71_Ala73del
ENST00000650682.1:c.-327_-319del	ENSP00000498223.1:n.-327_-319del
ENST00000650774.1:c.161_169del	ENSP00000498908.1:p.Arg54_Ser56del
ENST00000651155.1:c.211_219del	ENSP00000499193.1:p.Val71_Ala73del
ENST00000651237.1:c.-327_-319del	ENSP00000498404.1:n.-327_-319del
ENST00000652073.1:c.-327_-319del	ENSP00000498800.1:n.-327_-319del
ENST00000652092.2:c.211_219del MANE Select	ENSP00000498299.1:p.Val71_Ala73del
ENST00000652122.1:c.211_219del	ENSP00000498917.1:p.Val71_Ala73del
ENST00000652310.1:c.*139_*147del	ENSP00000498927.1:n.*139_*147del
ENST00000358110.6:c.211_219del	ENSP00000350823.5:p.Val71_Ala73del
ENST00000359452.8:c.211_219del	ENSP00000352427.4:p.Val71_Ala73del
ENST00000372092.3:c.161_169del	ENSP00000361164.3:p.Arg54_Ser56del
ENST00000469446.5:n.249_257del
ENST00000478727.5:n.249_257del
ENST00000483660.5:n.108-1200_108-1192del
ENST00000483744.5:n.18_26del
ENST00000483771.5:n.163_171del
NM_001012720.1:c.211_219del	NP_001012738.1:p.Val71_Ala73del
NM_001012722.1:c.211_219del	NP_001012740.1:p.Val71_Ala73del
NM_002921.3:c.211_219del	NP_002912.2:p.Val71_Ala73del
XM_011540028.1:c.238_246del	XP_011538330.1:p.Val80_Ala82del
XM_024448118.1:c.211_219del	XP_024303886.1:p.Val71_Ala73del
XR_002957005.1:n.1561_1569del
NM_001012720.2:c.211_219del MANE Select	NP_001012738.1:p.Val71_Ala73del
NM_001012722.2:c.211_219del	NP_001012740.1:p.Val71_Ala73del
NM_002921.4:c.211_219del	NP_002912.2:p.Val71_Ala73del