Canonical Allele Identifier: CA2697551900
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2749627
ClinVar RCV Id: RCV003514943
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304022_48304034del , CM000675.2:g.48304022_48304034del GRCh38
NC_000013.10:g.48878158_48878170del , CM000675.1:g.48878158_48878170del GRCh37
NC_000013.9:g.47776159_47776171del NCBI36
NG_009009.1:g.5276_5288del , LRG_517:g.5276_5288del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.110_122del MANE Select ENSP00000267163.4:p.Ser37ThrfsTer24
ENST00000646097.1:c.110_122del ENSP00000496556.1:p.Ser37ThrfsTer24
ENST00000650461.1:c.110_122del ENSP00000497193.1:p.Ser37ThrfsTer24
ENST00000267163.4:c.110_122del ENSP00000267163.4:p.Ser37ThrfsTer24
ENST00000467505.5:c.110_122del ENSP00000434702.1:p.Ser37ThrfsTer?
ENST00000525036.1:n.272_284del
NM_000321.2:c.110_122del , LRG_517t1:c.110_122del NP_000312.2:p.Ser37ThrfsTer24
NM_000321.3:c.110_122del MANE Select NP_000312.2:p.Ser37ThrfsTer24
Search 100 bp 5'
Search 100 bp 3'