Canonical Allele Identifier: CA930649983

Gene: RGR

Linked Data

• dbSNP Id: rs1842760642
• gnomAD v3: 10-84247481-CTTCCTTG-C
• gnomAD v4: 10-84247481-CTTCCTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247483_84247489del , CM000672.2:g.84247483_84247489del	GRCh38
NC_000010.10:g.86007239_86007245del , CM000672.1:g.86007239_86007245del	GRCh37
NC_000010.9:g.85997219_85997225del	NCBI36
NG_009106.1:g.7431_7437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.80-108_80-102del	ENSP00000350823.5:n.80-108_80-102del
ENST00000359452.9:c.80-108_80-102del	ENSP00000352427.4:n.80-108_80-102del
ENST00000478727.6:c.*58-15_*58-9del	ENSP00000498966.1:n.*58-15_*58-9del
ENST00000483744.6:c.80-108_80-102del	ENSP00000498992.1:n.80-108_80-102del
ENST00000650682.1:c.-551-15_-551-9del	ENSP00000498223.1:n.-551-15_-551-9del
ENST00000650774.1:c.80-158_80-152del	ENSP00000498908.1:n.80-158_80-152del
ENST00000651155.1:c.80-108_80-102del	ENSP00000499193.1:n.80-108_80-102del
ENST00000651237.1:c.-551-15_-551-9del	ENSP00000498404.1:n.-551-15_-551-9del
ENST00000652073.1:c.-458-108_-458-102del	ENSP00000498800.1:n.-458-108_-458-102del
ENST00000652092.2:c.80-108_80-102del MANE Select	ENSP00000498299.1:n.80-108_80-102del
ENST00000652122.1:c.80-108_80-102del	ENSP00000498917.1:n.80-108_80-102del
ENST00000652310.1:c.*58-158_*58-152del	ENSP00000498927.1:n.*58-158_*58-152del
ENST00000358110.6:c.80-108_80-102del	ENSP00000350823.5:n.80-108_80-102del
ENST00000359452.8:c.80-108_80-102del	ENSP00000352427.4:n.80-108_80-102del
ENST00000372092.3:c.80-158_80-152del	ENSP00000361164.3:n.80-158_80-152del
ENST00000469446.5:n.118-108_118-102del
ENST00000478727.5:n.118-108_118-102del
ENST00000483660.5:n.108-1439_108-1433del
ENST00000483771.5:n.82-158_82-152del
NM_001012720.1:c.80-108_80-102del	NP_001012738.1:n.80-108_80-102del
NM_001012722.1:c.80-108_80-102del	NP_001012740.1:n.80-108_80-102del
NM_002921.3:c.80-108_80-102del	NP_002912.2:n.80-108_80-102del
XM_011540028.1:c.107-108_107-102del	XP_011538330.1:n.107-108_107-102del
XM_024448118.1:c.80-108_80-102del	XP_024303886.1:n.80-108_80-102del
XR_002957005.1:n.1430-108_1430-102del
NM_001012720.2:c.80-108_80-102del MANE Select	NP_001012738.1:n.80-108_80-102del
NM_001012722.2:c.80-108_80-102del	NP_001012740.1:n.80-108_80-102del
NM_002921.4:c.80-108_80-102del	NP_002912.2:n.80-108_80-102del