Canonical Allele Identifier: CA2090013595
Gene: RB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48464950A= , CM000675.2:g.48464950A= GRCh38
NC_000013.10:g.49039086A= , CM000675.1:g.49039086A= GRCh37
NC_000013.9:g.47937087A= NCBI36
NG_009009.1:g.166204A= , LRG_517:g.166204A=

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2212-48A= MANE Select ENSP00000267163.4:n.2212-48A=
ENST00000643064.1:c.194+83507A=
ENST00000650461.1:c.2212-48A= ENSP00000497193.1:n.2212-48A=
ENST00000267163.4:c.2212-48A= ENSP00000267163.4:n.2212-48A=
NM_000321.2:c.2212-48A= , LRG_517t1:c.2212-48A= NP_000312.2:n.2212-48A=
XM_011535171.1:c.1951-48A= XP_011533473.1:n.1951-48A=
XM_011535171.2:c.1951-48A= XP_011533473.1:n.1951-48A=
NM_000321.3:c.2212-48A= MANE Select NP_000312.2:n.2212-48A=
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