Canonical Allele Identifier: CA594886965

Gene: RGR

Linked Data

• dbSNP Id: rs1313159589
• gnomAD v2: 10-86007494-GC-G
• gnomAD v4: 10-84247738-GC-G
• MyVariant Identifiers: chr10:g.86007495del (hg19) ; chr10:g.84247739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84247740del , CM000672.2:g.84247740del	GRCh38
NC_000010.10:g.86007496del , CM000672.1:g.86007496del	GRCh37
NC_000010.9:g.85997476del	NCBI36
NG_009106.1:g.7688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358110.7:c.229del	ENSP00000350823.5:p.Leu77PhefsTer21
ENST00000359452.9:c.229del	ENSP00000352427.4:p.Leu77PhefsTer25
ENST00000478727.6:c.*300del	ENSP00000498966.1:n.*300del
ENST00000483744.6:c.229del	ENSP00000498992.1:p.Leu77PhefsTer21
ENST00000650682.1:c.-309del	ENSP00000498223.1:n.-309del
ENST00000650774.1:c.179del	ENSP00000498908.1:p.Pro60LeufsTer?
ENST00000651155.1:c.229del	ENSP00000499193.1:p.Leu77PhefsTer21
ENST00000651237.1:c.-309del	ENSP00000498404.1:n.-309del
ENST00000652073.1:c.-309del	ENSP00000498800.1:n.-309del
ENST00000652092.2:c.229del MANE Select	ENSP00000498299.1:p.Leu77PhefsTer21
ENST00000652122.1:c.229del	ENSP00000498917.1:p.Leu77PhefsTer?
ENST00000652310.1:c.*157del	ENSP00000498927.1:n.*157del
ENST00000358110.6:c.229del	ENSP00000350823.5:p.Leu77PhefsTer21
ENST00000359452.8:c.229del	ENSP00000352427.4:p.Leu77PhefsTer25
ENST00000372092.3:c.179del	ENSP00000361164.3:p.Pro60LeufsTer?
ENST00000469446.5:n.267del
ENST00000478727.5:n.267del
ENST00000483660.5:n.108-1182del
ENST00000483744.5:n.36del
ENST00000483771.5:n.181del
NM_001012720.1:c.229del	NP_001012738.1:p.Leu77PhefsTer21
NM_001012722.1:c.229del	NP_001012740.1:p.Leu77PhefsTer21
NM_002921.3:c.229del	NP_002912.2:p.Leu77PhefsTer25
XM_011540028.1:c.256del	XP_011538330.1:p.Leu86PhefsTer21
XM_024448118.1:c.229del	XP_024303886.1:p.Leu77PhefsTer21
XR_002957005.1:n.1579del
NM_001012720.2:c.229del MANE Select	NP_001012738.1:p.Leu77PhefsTer21
NM_001012722.2:c.229del	NP_001012740.1:p.Leu77PhefsTer21
NM_002921.4:c.229del	NP_002912.2:p.Leu77PhefsTer25