Canonical Allele Identifier: CA2580087714

Gene: RB1

Linked Data

• ClinVar Variation Id: 1731064
• ClinVar RCV Id: RCV002452073

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303946_48303963del , CM000675.2:g.48303946_48303963del	GRCh38
NC_000013.10:g.48878082_48878099del , CM000675.1:g.48878082_48878099del	GRCh37
NC_000013.9:g.47776083_47776100del	NCBI36
NG_009009.1:g.5200_5217del , LRG_517:g.5200_5217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.34_51del MANE Select	ENSP00000267163.4:p.Thr12_Ala17del
ENST00000646097.1:c.34_51del	ENSP00000496556.1:p.Thr12_Ala17del
ENST00000650461.1:c.34_51del	ENSP00000497193.1:p.Thr12_Ala17del
ENST00000267163.4:c.34_51del	ENSP00000267163.4:p.Thr12_Ala17del
ENST00000467505.5:c.34_51del	ENSP00000434702.1:p.Thr12_Ala17del
ENST00000525036.1:n.196_213del
NM_000321.2:c.34_51del , LRG_517t1:c.34_51del	NP_000312.2:p.Thr12_Ala17del
NM_000321.3:c.34_51del MANE Select	NP_000312.2:p.Thr12_Ala17del