Canonical Allele Identifier: CA2580087605
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2009015
ClinVar RCV Id: RCV002829085
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381320dup , CM000675.2:g.48381320dup GRCh38
NC_000013.10:g.48955456dup , CM000675.1:g.48955456dup GRCh37
NC_000013.9:g.47853457dup NCBI36
NG_009009.1:g.82574dup , LRG_517:g.82574dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1572dup MANE Select ENSP00000267163.4:p.Ala525SerfsTer3
ENST00000643064.1:c.71dup
ENST00000650461.1:c.1572dup ENSP00000497193.1:p.Ala525SerfsTer3
ENST00000267163.4:c.1572dup ENSP00000267163.4:p.Ala525SerfsTer3
NM_000321.2:c.1572dup , LRG_517t1:c.1572dup NP_000312.2:p.Ala525SerfsTer3
XM_011535171.1:c.1311dup XP_011533473.1:p.Ala438SerfsTer3
XM_011535171.2:c.1311dup XP_011533473.1:p.Ala438SerfsTer3
NM_000321.3:c.1572dup MANE Select NP_000312.2:p.Ala525SerfsTer3
Search 100 bp 5'
Search 100 bp 3'