Canonical Allele Identifier: CA2799118560
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381203_48381205del , CM000675.2:g.48381203_48381205del GRCh38
NC_000013.10:g.48955339_48955341del , CM000675.1:g.48955339_48955341del GRCh37
NC_000013.9:g.47853340_47853342del NCBI36
NG_009009.1:g.82457_82459del , LRG_517:g.82457_82459del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1499-44_1499-42del MANE Select ENSP00000267163.4:n.1499-44_1499-42del
ENST00000650461.1:c.1499-44_1499-42del ENSP00000497193.1:n.1499-44_1499-42del
ENST00000267163.4:c.1499-44_1499-42del ENSP00000267163.4:n.1499-44_1499-42del
NM_000321.2:c.1499-44_1499-42del , LRG_517t1:c.1499-44_1499-42del NP_000312.2:n.1499-44_1499-42del
XM_011535171.1:c.1238-44_1238-42del XP_011533473.1:n.1238-44_1238-42del
XM_011535171.2:c.1238-44_1238-42del XP_011533473.1:n.1238-44_1238-42del
NM_000321.3:c.1499-44_1499-42del MANE Select NP_000312.2:n.1499-44_1499-42del