Canonical Allele Identifier: CA2573149540

Gene: RB1

Linked Data

• ClinVar Variation Id: 1397119
• ClinVar RCV Id: RCV001920131
• dbSNP Id: rs2138027150

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303946_48303983del , CM000675.2:g.48303946_48303983del	GRCh38
NC_000013.10:g.48878082_48878119del , CM000675.1:g.48878082_48878119del	GRCh37
NC_000013.9:g.47776083_47776120del	NCBI36
NG_009009.1:g.5200_5237del , LRG_517:g.5200_5237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.34_71del MANE Select	ENSP00000267163.4:p.Thr12AlafsTer6
ENST00000646097.1:c.34_71del	ENSP00000496556.1:p.Thr12AlafsTer6
ENST00000650461.1:c.34_71del	ENSP00000497193.1:p.Thr12AlafsTer6
ENST00000267163.4:c.34_71del	ENSP00000267163.4:p.Thr12AlafsTer6
ENST00000467505.5:c.34_71del	ENSP00000434702.1:p.Thr12AlafsTer6
ENST00000525036.1:n.196_233del
NM_000321.2:c.34_71del , LRG_517t1:c.34_71del	NP_000312.2:p.Thr12AlafsTer6
NM_000321.3:c.34_71del MANE Select	NP_000312.2:p.Thr12AlafsTer6