Canonical Allele Identifier: CA2089950698
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304186C= , CM000675.2:g.48304186C= GRCh38
NC_000013.10:g.48878322C= , CM000675.1:g.48878322C= GRCh37
NC_000013.9:g.47776323C= NCBI36
NG_009009.1:g.5440C= , LRG_517:g.5440C=

Transcript Alleles

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