Canonical Allele Identifier: CA2695218226

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304021_48304028del , CM000675.2:g.48304021_48304028del	GRCh38
NC_000013.10:g.48878157_48878164del , CM000675.1:g.48878157_48878164del	GRCh37
NC_000013.9:g.47776158_47776165del	NCBI36
NG_009009.1:g.5275_5282del , LRG_517:g.5275_5282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.109_116del MANE Select	ENSP00000267163.4:p.Ser37GlyfsTer9
ENST00000646097.1:c.109_116del	ENSP00000496556.1:p.Ser37GlyfsTer9
ENST00000650461.1:c.109_116del	ENSP00000497193.1:p.Ser37GlyfsTer9
ENST00000267163.4:c.109_116del	ENSP00000267163.4:p.Ser37GlyfsTer9
ENST00000467505.5:c.109_116del	ENSP00000434702.1:p.Ser37GlyfsTer18
ENST00000525036.1:n.271_278del
NM_000321.2:c.109_116del , LRG_517t1:c.109_116del	NP_000312.2:p.Ser37GlyfsTer9
NM_000321.3:c.109_116del MANE Select	NP_000312.2:p.Ser37GlyfsTer9