Canonical Allele Identifier: CA2622981511
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48381215-CATAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381219_48381222del , CM000675.2:g.48381219_48381222del GRCh38
NC_000013.10:g.48955355_48955358del , CM000675.1:g.48955355_48955358del GRCh37
NC_000013.9:g.47853356_47853359del NCBI36
NG_009009.1:g.82473_82476del , LRG_517:g.82473_82476del

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1499-28_1499-25del MANE Select ENSP00000267163.4:n.1499-28_1499-25del
ENST00000650461.1:c.1499-28_1499-25del ENSP00000497193.1:n.1499-28_1499-25del
ENST00000267163.4:c.1499-28_1499-25del ENSP00000267163.4:n.1499-28_1499-25del
NM_000321.2:c.1499-28_1499-25del , LRG_517t1:c.1499-28_1499-25del NP_000312.2:n.1499-28_1499-25del
XM_011535171.1:c.1238-28_1238-25del XP_011533473.1:n.1238-28_1238-25del
XM_011535171.2:c.1238-28_1238-25del XP_011533473.1:n.1238-28_1238-25del
NM_000321.3:c.1499-28_1499-25del MANE Select NP_000312.2:n.1499-28_1499-25del
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