Canonical Allele Identifier: CA645369602

Gene: RB1

Linked Data

• ClinVar Variation Id: 428741
• ClinVar RCV Id: RCV000492357
• dbSNP Id: rs1131690913
• gnomAD v4: 13-48304016-AG-A
• MyVariant Identifiers: chr13:g.48878154del (hg19) ; chr13:g.48304018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304018del , CM000675.2:g.48304018del	GRCh38
NC_000013.10:g.48878154del , CM000675.1:g.48878154del	GRCh37
NC_000013.9:g.47776155del	NCBI36
NG_009009.1:g.5272del , LRG_517:g.5272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.106del MANE Select	ENSP00000267163.4:p.Asp36ThrfsTer29
ENST00000646097.1:c.106del	ENSP00000496556.1:p.Asp36ThrfsTer29
ENST00000650461.1:c.106del	ENSP00000497193.1:p.Asp36ThrfsTer29
ENST00000267163.4:c.106del	ENSP00000267163.4:p.Asp36ThrfsTer29
ENST00000467505.5:c.106del	ENSP00000434702.1:p.Asp36ThrfsTer?
ENST00000525036.1:n.268del
NM_000321.2:c.106del , LRG_517t1:c.106del	NP_000312.2:p.Asp36ThrfsTer29
NM_000321.3:c.106del MANE Select	NP_000312.2:p.Asp36ThrfsTer29