Canonical Allele Identifier: CA2695218502
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231198
ClinVar RCV Id: RCV004525269
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381353del , CM000675.2:g.48381353del GRCh38
NC_000013.10:g.48955489del , CM000675.1:g.48955489del GRCh37
NC_000013.9:g.47853490del NCBI36
NG_009009.1:g.82607del , LRG_517:g.82607del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1605del MANE Select ENSP00000267163.4:p.Phe535LeufsTer8
ENST00000643064.1:c.104del
ENST00000650461.1:c.1605del ENSP00000497193.1:p.Phe535LeufsTer8
ENST00000267163.4:c.1605del ENSP00000267163.4:p.Phe535LeufsTer8
NM_000321.2:c.1605del , LRG_517t1:c.1605del NP_000312.2:p.Phe535LeufsTer8
XM_011535171.1:c.1344del XP_011533473.1:p.Phe448LeufsTer8
XM_011535171.2:c.1344del XP_011533473.1:p.Phe448LeufsTer8
NM_000321.3:c.1605del MANE Select NP_000312.2:p.Phe535LeufsTer8
Search 100 bp 5'
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