Canonical Allele Identifier: CA2089950532
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304093C= , CM000675.2:g.48304093C= GRCh38
NC_000013.10:g.48878229C= , CM000675.1:g.48878229C= GRCh37
NC_000013.9:g.47776230C= NCBI36
NG_009009.1:g.5347C= , LRG_517:g.5347C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+44C= MANE Select ENSP00000267163.4:n.137+44C=
ENST00000646097.1:c.137+44C= ENSP00000496556.1:n.137+44C=
ENST00000650461.1:c.137+44C= ENSP00000497193.1:n.137+44C=
ENST00000267163.4:c.137+44C= ENSP00000267163.4:n.137+44C=
ENST00000467505.5:c.137+44C= ENSP00000434702.1:n.137+44C=
ENST00000525036.1:n.299+44C=
NM_000321.2:c.137+44C= , LRG_517t1:c.137+44C= NP_000312.2:n.137+44C=
NM_000321.3:c.137+44C= MANE Select NP_000312.2:n.137+44C=
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