Canonical Allele Identifier: CA2089972239
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1952518645
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348608del , CM000675.2:g.48348608del GRCh38
NC_000013.10:g.48922744del , CM000675.1:g.48922744del GRCh37
NC_000013.9:g.47820745del NCBI36
NG_009009.1:g.49862del , LRG_517:g.49862del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.540-348del MANE Select ENSP00000267163.4:n.540-348del
ENST00000650461.1:c.540-348del ENSP00000497193.1:n.540-348del
ENST00000267163.4:c.540-348del ENSP00000267163.4:n.540-348del
ENST00000467505.5:c.138-11409del ENSP00000434702.1:n.138-11409del
ENST00000525036.1:n.702-348del
NM_000321.2:c.540-348del , LRG_517t1:c.540-348del NP_000312.2:n.540-348del
XM_011535171.1:c.279-348del XP_011533473.1:n.279-348del
XM_011535171.2:c.279-348del XP_011533473.1:n.279-348del
NM_000321.3:c.540-348del MANE Select NP_000312.2:n.540-348del
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