Canonical Allele Identifier: CA918726439
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1564567042
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958011_87958013del , CM000672.2:g.87958011_87958013del GRCh38
NC_000010.10:g.89717768_89717770del , CM000672.1:g.89717768_89717770del GRCh37
NC_000010.9:g.89707748_89707750del NCBI36
NG_007466.2:g.99573_99575del , LRG_311:g.99573_99575del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.793_795del ENSP00000514759.2:p.Leu265del
ENST00000710265.1:c.793_795del ENSP00000518161.1:p.Leu265del
ENST00000472832.3:c.793_795del ENSP00000483066.2:p.Leu265del
ENST00000688158.2:n.1528_1530del
ENST00000688922.2:c.*623_*625del ENSP00000508742.2:n.*623_*625del
ENST00000700021.1:c.748_750del ENSP00000514757.1:p.Leu250del
ENST00000700022.1:c.*132_*134del ENSP00000514758.1:n.*132_*134del
ENST00000700023.1:n.1951_1953del
ENST00000700024.1:n.2185_2187del
ENST00000700025.1:n.1562_1564del
ENST00000700026.1:n.430_432del
ENST00000700029.1:c.627_629del
ENST00000706954.1:c.793_795del ENSP00000516674.1:p.Leu265del
ENST00000706955.1:c.*828_*830del ENSP00000516675.1:n.*828_*830del
ENST00000686459.1:c.*379_*381del ENSP00000508909.1:n.*379_*381del
ENST00000688158.1:c.*904_*906del ENSP00000509254.1:n.*904_*906del
ENST00000688308.1:c.793_795del ENSP00000508752.1:p.Leu265del
ENST00000688922.1:c.714_716del
ENST00000693560.1:c.1312_1314del ENSP00000509861.1:p.Leu438del
ENST00000371953.8:c.793_795del MANE Select ENSP00000361021.3:p.Leu265del
ENST00000371953.7:c.793_795del ENSP00000361021.3:p.Leu265del
ENST00000472832.2:c.220_222del ENSP00000483066.1:p.Leu74del
NM_000314.5:c.793_795del NP_000305.3:p.Leu265del
NM_000314.6:c.793_795del NP_000305.3:p.Leu265del
NM_001304717.2:c.1312_1314del NP_001291646.2:p.Leu438del
NM_001304718.1:c.202_204del NP_001291647.1:p.Leu68del
XM_006717926.2:c.748_750del XP_006717989.1:p.Leu250del
XM_011539981.1:c.793_795del XP_011538283.1:p.Leu265del
XM_011539982.1:c.697_699del XP_011538284.1:p.Leu233del
XR_945791.1:n.1363_1365del
NM_000314.7:c.793_795del NP_000305.3:p.Leu265del
NM_001304717.5:c.1312_1314del NP_001291646.4:p.Leu438del
NM_001304718.2:c.202_204del NP_001291647.1:p.Leu68del
NM_000314.8:c.793_795del MANE Select NP_000305.3:p.Leu265del
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