Canonical Allele Identifier: CA2831039826
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303946_48303986del , CM000675.2:g.48303946_48303986del GRCh38
NC_000013.10:g.48878082_48878122del , CM000675.1:g.48878082_48878122del GRCh37
NC_000013.9:g.47776083_47776123del NCBI36
NG_009009.1:g.5200_5240del , LRG_517:g.5200_5240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.34_74del MANE Select ENSP00000267163.4:p.Thr12AlafsTer5
ENST00000646097.1:c.34_74del ENSP00000496556.1:p.Thr12AlafsTer5
ENST00000650461.1:c.34_74del ENSP00000497193.1:p.Thr12AlafsTer5
ENST00000267163.4:c.34_74del ENSP00000267163.4:p.Thr12AlafsTer5
ENST00000467505.5:c.34_74del ENSP00000434702.1:p.Thr12AlafsTer5
ENST00000525036.1:n.196_236del
NM_000321.2:c.34_74del , LRG_517t1:c.34_74del NP_000312.2:p.Thr12AlafsTer5
NM_000321.3:c.34_74del MANE Select NP_000312.2:p.Thr12AlafsTer5
Search 100 bp 5'
Search 100 bp 3'