Canonical Allele Identifier: CA2695218462
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380102_48380122del , CM000675.2:g.48380102_48380122del GRCh38
NC_000013.10:g.48954238_48954258del , CM000675.1:g.48954238_48954258del GRCh37
NC_000013.9:g.47852239_47852259del NCBI36
NG_009009.1:g.81356_81376del , LRG_517:g.81356_81376del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1421+18_1421+38del MANE Select ENSP00000267163.4:n.1421+18_1421+38del
ENST00000650461.1:c.1421+18_1421+38del ENSP00000497193.1:n.1421+18_1421+38del
ENST00000267163.4:c.1421+18_1421+38del ENSP00000267163.4:n.1421+18_1421+38del
NM_000321.2:c.1421+18_1421+38del , LRG_517t1:c.1421+18_1421+38del NP_000312.2:n.1421+18_1421+38del
XM_011535171.1:c.1160+18_1160+38del XP_011533473.1:n.1160+18_1160+38del
XM_011535171.2:c.1160+18_1160+38del XP_011533473.1:n.1160+18_1160+38del
NM_000321.3:c.1421+18_1421+38del MANE Select NP_000312.2:n.1421+18_1421+38del