Canonical Allele Identifier: CA2799118537
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380042_48380044del , CM000675.2:g.48380042_48380044del GRCh38
NC_000013.10:g.48954178_48954180del , CM000675.1:g.48954178_48954180del GRCh37
NC_000013.9:g.47852179_47852181del NCBI36
NG_009009.1:g.81296_81298del , LRG_517:g.81296_81298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1390-11_1390-9del MANE Select ENSP00000267163.4:n.1390-11_1390-9del
ENST00000650461.1:c.1390-11_1390-9del ENSP00000497193.1:n.1390-11_1390-9del
ENST00000267163.4:c.1390-11_1390-9del ENSP00000267163.4:n.1390-11_1390-9del
NM_000321.2:c.1390-11_1390-9del , LRG_517t1:c.1390-11_1390-9del NP_000312.2:n.1390-11_1390-9del
XM_011535171.1:c.1129-11_1129-9del XP_011533473.1:n.1129-11_1129-9del
XM_011535171.2:c.1129-11_1129-9del XP_011533473.1:n.1129-11_1129-9del
NM_000321.3:c.1390-11_1390-9del MANE Select NP_000312.2:n.1390-11_1390-9del