Canonical Allele Identifier: CA645571616
Gene: RB1 HGNC NCBI

Linked Data

COSMIC: COSM5047619 COSM5047620
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459739_48459741del , CM000675.2:g.48459739_48459741del GRCh38
NC_000013.10:g.49033875_49033877del , CM000675.1:g.49033875_49033877del GRCh37
NC_000013.9:g.47931876_47931878del NCBI36
NG_009009.1:g.160993_160995del , LRG_517:g.160993_160995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2012_2014del MANE Select ENSP00000267163.4:p.Ser671Ter
ENST00000643064.1:c.194+78296_194+78298del
ENST00000650461.1:c.2012_2014del ENSP00000497193.1:p.Ser671Ter
ENST00000267163.4:c.2012_2014del ENSP00000267163.4:p.Ser671Ter
NM_000321.2:c.2012_2014del , LRG_517t1:c.2012_2014del NP_000312.2:p.Ser671Ter
XM_011535171.1:c.1751_1753del XP_011533473.1:p.Ser584Ter
XM_011535171.2:c.1751_1753del XP_011533473.1:p.Ser584Ter
NM_000321.3:c.2012_2014del MANE Select NP_000312.2:p.Ser671Ter
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Search 100 bp 3'