Canonical Allele Identifier: CA2741319330
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48464922_48464924del , CM000675.2:g.48464922_48464924del GRCh38
NC_000013.10:g.49039058_49039060del , CM000675.1:g.49039058_49039060del GRCh37
NC_000013.9:g.47937059_47937061del NCBI36
NG_009009.1:g.166176_166178del , LRG_517:g.166176_166178del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2212-76_2212-74del MANE Select ENSP00000267163.4:n.2212-76_2212-74del
ENST00000643064.1:c.194+83479_194+83481del
ENST00000650461.1:c.2212-76_2212-74del ENSP00000497193.1:n.2212-76_2212-74del
ENST00000267163.4:c.2212-76_2212-74del ENSP00000267163.4:n.2212-76_2212-74del
NM_000321.2:c.2212-76_2212-74del , LRG_517t1:c.2212-76_2212-74del NP_000312.2:n.2212-76_2212-74del
XM_011535171.1:c.1951-76_1951-74del XP_011533473.1:n.1951-76_1951-74del
XM_011535171.2:c.1951-76_1951-74del XP_011533473.1:n.1951-76_1951-74del
NM_000321.3:c.2212-76_2212-74del MANE Select NP_000312.2:n.2212-76_2212-74del