Canonical Allele Identifier: CA2580087728
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1769066
ClinVar RCV Id: RCV002383283
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304040dup , CM000675.2:g.48304040dup GRCh38
NC_000013.10:g.48878176dup , CM000675.1:g.48878176dup GRCh37
NC_000013.9:g.47776177dup NCBI36
NG_009009.1:g.5294dup , LRG_517:g.5294dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.128dup MANE Select ENSP00000267163.4:p.Leu44SerfsTer5
ENST00000646097.1:c.128dup ENSP00000496556.1:p.Leu44SerfsTer5
ENST00000650461.1:c.128dup ENSP00000497193.1:p.Leu44SerfsTer5
ENST00000267163.4:c.128dup ENSP00000267163.4:p.Leu44SerfsTer5
ENST00000467505.5:c.128dup ENSP00000434702.1:p.Leu44SerfsTer14
ENST00000525036.1:n.290dup
NM_000321.2:c.128dup , LRG_517t1:c.128dup NP_000312.2:p.Leu44SerfsTer5
NM_000321.3:c.128dup MANE Select NP_000312.2:p.Leu44SerfsTer5
Search 100 bp 5'
Search 100 bp 3'