Canonical Allele Identifier: CA645554035
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM1173620
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957958_87957974del , CM000672.2:g.87957958_87957974del GRCh38
NC_000010.10:g.89717715_89717731del , CM000672.1:g.89717715_89717731del GRCh37
NC_000010.9:g.89707695_89707711del NCBI36
NG_007466.2:g.99520_99536del , LRG_311:g.99520_99536del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.740_756del ENSP00000514759.2:p.Leu247TyrfsTer?
ENST00000710265.1:c.740_756del ENSP00000518161.1:p.Leu247TyrfsTer?
ENST00000472832.3:c.740_756del ENSP00000483066.2:p.Leu247TyrfsTer?
ENST00000688158.2:n.1475_1491del
ENST00000688922.2:c.*570_*586del ENSP00000508742.2:n.*570_*586del
ENST00000700021.1:c.695_711del ENSP00000514757.1:p.Leu232TyrfsTer?
ENST00000700022.1:c.*79_*95del ENSP00000514758.1:n.*79_*95del
ENST00000700023.1:n.1898_1914del
ENST00000700024.1:n.2132_2148del
ENST00000700025.1:n.1509_1525del
ENST00000700026.1:n.377_393del
ENST00000700029.1:c.574_590del
ENST00000706954.1:c.740_756del ENSP00000516674.1:p.Leu247TyrfsTer?
ENST00000706955.1:c.*775_*791del ENSP00000516675.1:n.*775_*791del
ENST00000686459.1:c.*326_*342del ENSP00000508909.1:n.*326_*342del
ENST00000688158.1:c.*851_*867del ENSP00000509254.1:n.*851_*867del
ENST00000688308.1:c.740_756del ENSP00000508752.1:p.Leu247TyrfsTer?
ENST00000688922.1:c.661_677del
ENST00000693560.1:c.1259_1275del ENSP00000509861.1:p.Leu420TyrfsTer?
ENST00000371953.8:c.740_756del MANE Select ENSP00000361021.3:p.Leu247TyrfsTer?
ENST00000371953.7:c.740_756del ENSP00000361021.3:p.Leu247TyrfsTer?
ENST00000472832.2:c.167_183del ENSP00000483066.1:p.Leu56TyrfsTer?
NM_000314.5:c.740_756del NP_000305.3:p.Leu247TyrfsTer?
NM_000314.6:c.740_756del NP_000305.3:p.Leu247TyrfsTer?
NM_001304717.2:c.1259_1275del NP_001291646.2:p.Leu420TyrfsTer?
NM_001304718.1:c.149_165del NP_001291647.1:p.Leu50TyrfsTer?
XM_006717926.2:c.695_711del XP_006717989.1:p.Leu232TyrfsTer?
XM_011539981.1:c.740_756del XP_011538283.1:p.Leu247TyrfsTer?
XM_011539982.1:c.644_660del XP_011538284.1:p.Leu215TyrfsTer?
XR_945791.1:n.1310_1326del
NM_000314.7:c.740_756del NP_000305.3:p.Leu247TyrfsTer?
NM_001304717.5:c.1259_1275del NP_001291646.4:p.Leu420TyrfsTer?
NM_001304718.2:c.149_165del NP_001291647.1:p.Leu50TyrfsTer?
NM_000314.8:c.740_756del MANE Select NP_000305.3:p.Leu247TyrfsTer?
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