Canonical Allele Identifier: CA1924470059

Gene: RGR

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247721_84247722delinsCG , CM000672.2:g.84247721_84247722delinsCG	GRCh38
NC_000010.10:g.86007477_86007478delinsCG , CM000672.1:g.86007477_86007478delinsCG	GRCh37
NC_000010.9:g.85997457_85997458delinsCG	NCBI36
NG_009106.1:g.7669_7670delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.210_211delinsCG	ENSP00000350823.5:p.Leu70=
ENST00000359452.9:c.210_211delinsCG	ENSP00000352427.4:p.Leu70=
ENST00000478727.6:c.*281_*282delinsCG	ENSP00000498966.1:n.*281_*282delinsCG
ENST00000483744.6:c.210_211delinsCG	ENSP00000498992.1:p.Leu70=
ENST00000650682.1:c.-328_-327delinsCG	ENSP00000498223.1:n.-328_-327delinsCG
ENST00000650774.1:c.160_161delinsCG	ENSP00000498908.1:p.Arg54=
ENST00000651155.1:c.210_211delinsCG	ENSP00000499193.1:p.Leu70=
ENST00000651237.1:c.-328_-327delinsCG	ENSP00000498404.1:n.-328_-327delinsCG
ENST00000652073.1:c.-328_-327delinsCG	ENSP00000498800.1:n.-328_-327delinsCG
ENST00000652092.2:c.210_211delinsCG MANE Select	ENSP00000498299.1:p.Leu70=
ENST00000652122.1:c.210_211delinsCG	ENSP00000498917.1:p.Leu70=
ENST00000652310.1:c.*138_*139delinsCG	ENSP00000498927.1:n.*138_*139delinsCG
ENST00000358110.6:c.210_211delinsCG	ENSP00000350823.5:p.Leu70=
ENST00000359452.8:c.210_211delinsCG	ENSP00000352427.4:p.Leu70=
ENST00000372092.3:c.160_161delinsCG	ENSP00000361164.3:p.Arg54=
ENST00000469446.5:n.248_249delinsCG
ENST00000478727.5:n.248_249delinsCG
ENST00000483660.5:n.108-1201_108-1200delinsCG
ENST00000483744.5:n.17_18delinsCG
ENST00000483771.5:n.162_163delinsCG
NM_001012720.1:c.210_211delinsCG	NP_001012738.1:p.Leu70=
NM_001012722.1:c.210_211delinsCG	NP_001012740.1:p.Leu70=
NM_002921.3:c.210_211delinsCG	NP_002912.2:p.Leu70=
XM_011540028.1:c.237_238delinsCG	XP_011538330.1:p.Leu79=
XM_024448118.1:c.210_211delinsCG	XP_024303886.1:p.Leu70=
XR_002957005.1:n.1560_1561delinsCG
NM_001012720.2:c.210_211delinsCG MANE Select	NP_001012738.1:p.Leu70=
NM_001012722.2:c.210_211delinsCG	NP_001012740.1:p.Leu70=
NM_002921.4:c.210_211delinsCG	NP_002912.2:p.Leu70=