Canonical Allele Identifier: CA2499222454
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1074044
ClinVar RCV Id: RCV001387219
dbSNP Id: rs2138145163
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1572del MANE Select ENSP00000267163.4:p.Ala525ProfsTer7
ENST00000643064.1:c.71del
ENST00000650461.1:c.1572del ENSP00000497193.1:p.Ala525ProfsTer7
ENST00000267163.4:c.1572del ENSP00000267163.4:p.Ala525ProfsTer7
NM_000321.2:c.1572del , LRG_517t1:c.1572del NP_000312.2:p.Ala525ProfsTer7
XM_011535171.1:c.1311del XP_011533473.1:p.Ala438ProfsTer7
XM_011535171.2:c.1311del XP_011533473.1:p.Ala438ProfsTer7
NM_000321.3:c.1572del MANE Select NP_000312.2:p.Ala525ProfsTer7
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