Canonical Allele Identifier: CA2089972180
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381227_48381228delinsCT , CM000675.2:g.48381227_48381228delinsCT GRCh38
NC_000013.10:g.48955363_48955364delinsCT , CM000675.1:g.48955363_48955364delinsCT GRCh37
NC_000013.9:g.47853364_47853365delinsCT NCBI36
NG_009009.1:g.82481_82482delinsCT , LRG_517:g.82481_82482delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1499-20_1499-19delinsCT MANE Select ENSP00000267163.4:n.1499-20_1499-19delinsCT
ENST00000650461.1:c.1499-20_1499-19delinsCT ENSP00000497193.1:n.1499-20_1499-19delinsCT
ENST00000267163.4:c.1499-20_1499-19delinsCT ENSP00000267163.4:n.1499-20_1499-19delinsCT
NM_000321.2:c.1499-20_1499-19delinsCT , LRG_517t1:c.1499-20_1499-19delinsCT NP_000312.2:n.1499-20_1499-19delinsCT
XM_011535171.1:c.1238-20_1238-19delinsCT XP_011533473.1:n.1238-20_1238-19delinsCT
XM_011535171.2:c.1238-20_1238-19delinsCT XP_011533473.1:n.1238-20_1238-19delinsCT
NM_000321.3:c.1499-20_1499-19delinsCT MANE Select NP_000312.2:n.1499-20_1499-19delinsCT