Canonical Allele Identifier: CA2831039828

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304021_48304024delinsCCAGA , CM000675.2:g.48304021_48304024delinsCCAGA	GRCh38
NC_000013.10:g.48878157_48878160delinsCCAGA , CM000675.1:g.48878157_48878160delinsCCAGA	GRCh37
NC_000013.9:g.47776158_47776161delinsCCAGA	NCBI36
NG_009009.1:g.5275_5278delinsCCAGA , LRG_517:g.5275_5278delinsCCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.109_112delinsCCAGA MANE Select	ENSP00000267163.4:p.Ser37ProfsTer12
ENST00000646097.1:c.109_112delinsCCAGA	ENSP00000496556.1:p.Ser37ProfsTer12
ENST00000650461.1:c.109_112delinsCCAGA	ENSP00000497193.1:p.Ser37ProfsTer12
ENST00000267163.4:c.109_112delinsCCAGA	ENSP00000267163.4:p.Ser37ProfsTer12
ENST00000467505.5:c.109_112delinsCCAGA	ENSP00000434702.1:p.Ser37ProfsTer21
ENST00000525036.1:n.271_274delinsCCAGA
NM_000321.2:c.109_112delinsCCAGA , LRG_517t1:c.109_112delinsCCAGA	NP_000312.2:p.Ser37ProfsTer12
NM_000321.3:c.109_112delinsCCAGA MANE Select	NP_000312.2:p.Ser37ProfsTer12