Canonical Allele Identifier: CA2825002179

Gene: RB1

Linked Data

• ClinVar Variation Id: 3231255
• ClinVar RCV Id: RCV004525326

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304010_48304036dup , CM000675.2:g.48304010_48304036dup	GRCh38
NC_000013.10:g.48878146_48878172dup , CM000675.1:g.48878146_48878172dup	GRCh37
NC_000013.9:g.47776147_47776173dup	NCBI36
NG_009009.1:g.5264_5290dup , LRG_517:g.5264_5290dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.98_124dup MANE Select	ENSP00000267163.4:p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp...
ENST00000646097.1:c.98_124dup	ENSP00000496556.1:p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp...
ENST00000650461.1:c.98_124dup	ENSP00000497193.1:p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp...
ENST00000267163.4:c.98_124dup	ENSP00000267163.4:p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp...
ENST00000467505.5:c.98_124dup	ENSP00000434702.1:p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp...
ENST00000525036.1:n.260_286dup
NM_000321.2:c.98_124dup , LRG_517t1:c.98_124dup	NP_000312.2:p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp
NM_000321.3:c.98_124dup MANE Select	NP_000312.2:p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp