Canonical Allele Identifier: CA645580639
Gene: RB1 HGNC NCBI

Linked Data

COSMIC: COSM5701163 COSM5701164
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304026_48304027insT , CM000675.2:g.48304026_48304027insT GRCh38
NC_000013.10:g.48878162_48878163insT , CM000675.1:g.48878162_48878163insT GRCh37
NC_000013.9:g.47776163_47776164insT NCBI36
NG_009009.1:g.5280_5281insT , LRG_517:g.5280_5281insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.114_115insT MANE Select ENSP00000267163.4:p.Pro39SerfsTer10
ENST00000646097.1:c.114_115insT ENSP00000496556.1:p.Pro39SerfsTer10
ENST00000650461.1:c.114_115insT ENSP00000497193.1:p.Pro39SerfsTer10
ENST00000267163.4:c.114_115insT ENSP00000267163.4:p.Pro39SerfsTer10
ENST00000467505.5:c.114_115insT ENSP00000434702.1:p.Pro39SerfsTer19
ENST00000525036.1:n.276_277insT
NM_000321.2:c.114_115insT , LRG_517t1:c.114_115insT NP_000312.2:p.Pro39SerfsTer10
NM_000321.3:c.114_115insT MANE Select NP_000312.2:p.Pro39SerfsTer10
Search 100 bp 5'
Search 100 bp 3'