Canonical Allele Identifier: CA1924470069

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247738_84247739delinsGC , CM000672.2:g.84247738_84247739delinsGC	GRCh38
NC_000010.10:g.86007494_86007495delinsGC , CM000672.1:g.86007494_86007495delinsGC	GRCh37
NC_000010.9:g.85997474_85997475delinsGC	NCBI36
NG_009106.1:g.7686_7687delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.227_228delinsGC	ENSP00000350823.5:p.Ser76=
ENST00000359452.9:c.227_228delinsGC	ENSP00000352427.4:p.Ser76=
ENST00000478727.6:c.*298_*299delinsGC	ENSP00000498966.1:n.*298_*299delinsGC
ENST00000483744.6:c.227_228delinsGC	ENSP00000498992.1:p.Ser76=
ENST00000650682.1:c.-311_-310delinsGC	ENSP00000498223.1:n.-311_-310delinsGC
ENST00000650774.1:c.177_178delinsGC	ENSP00000498908.1:p.Gln59=
ENST00000651155.1:c.227_228delinsGC	ENSP00000499193.1:p.Ser76=
ENST00000651237.1:c.-311_-310delinsGC	ENSP00000498404.1:n.-311_-310delinsGC
ENST00000652073.1:c.-311_-310delinsGC	ENSP00000498800.1:n.-311_-310delinsGC
ENST00000652092.2:c.227_228delinsGC MANE Select	ENSP00000498299.1:p.Ser76=
ENST00000652122.1:c.227_228delinsGC	ENSP00000498917.1:p.Ser76=
ENST00000652310.1:c.*155_*156delinsGC	ENSP00000498927.1:n.*155_*156delinsGC
ENST00000358110.6:c.227_228delinsGC	ENSP00000350823.5:p.Ser76=
ENST00000359452.8:c.227_228delinsGC	ENSP00000352427.4:p.Ser76=
ENST00000372092.3:c.177_178delinsGC	ENSP00000361164.3:p.Gln59=
ENST00000469446.5:n.265_266delinsGC
ENST00000478727.5:n.265_266delinsGC
ENST00000483660.5:n.108-1184_108-1183delinsGC
ENST00000483744.5:n.34_35delinsGC
ENST00000483771.5:n.179_180delinsGC
NM_001012720.1:c.227_228delinsGC	NP_001012738.1:p.Ser76=
NM_001012722.1:c.227_228delinsGC	NP_001012740.1:p.Ser76=
NM_002921.3:c.227_228delinsGC	NP_002912.2:p.Ser76=
XM_011540028.1:c.254_255delinsGC	XP_011538330.1:p.Ser85=
XM_024448118.1:c.227_228delinsGC	XP_024303886.1:p.Ser76=
XR_002957005.1:n.1577_1578delinsGC
NM_001012720.2:c.227_228delinsGC MANE Select	NP_001012738.1:p.Ser76=
NM_001012722.2:c.227_228delinsGC	NP_001012740.1:p.Ser76=
NM_002921.4:c.227_228delinsGC	NP_002912.2:p.Ser76=