Canonical Allele Identifier: CA2579926970
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933144_87933146del , CM000672.2:g.87933144_87933146del GRCh38
NC_000010.10:g.89692901_89692903del , CM000672.1:g.89692901_89692903del GRCh37
NC_000010.9:g.89682881_89682883del NCBI36
NG_007466.2:g.74706_74708del , LRG_311:g.74706_74708del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.385_387del ENSP00000514759.2:p.Gly129del
ENST00000710265.1:c.385_387del ENSP00000518161.1:p.Gly129del
ENST00000472832.3:c.385_387del ENSP00000483066.2:p.Gly129del
ENST00000688158.2:n.1120_1122del
ENST00000688922.2:c.*215_*217del ENSP00000508742.2:n.*215_*217del
ENST00000700021.1:c.340_342del ENSP00000514757.1:p.Gly114del
ENST00000700022.1:c.385_387del ENSP00000514758.1:p.Gly129del
ENST00000700029.1:c.219_221del
ENST00000706954.1:c.385_387del ENSP00000516674.1:p.Gly129del
ENST00000706955.1:c.*420_*422del ENSP00000516675.1:n.*420_*422del
ENST00000686459.1:c.385_387del ENSP00000508909.1:p.Gly129del
ENST00000688158.1:c.*496_*498del ENSP00000509254.1:n.*496_*498del
ENST00000688308.1:c.385_387del ENSP00000508752.1:p.Gly129del
ENST00000688922.1:c.306_308del
ENST00000693560.1:c.904_906del ENSP00000509861.1:p.Gly302del
ENST00000371953.8:c.385_387del MANE Select ENSP00000361021.3:p.Gly129del
ENST00000371953.7:c.385_387del ENSP00000361021.3:p.Gly129del
ENST00000498703.1:n.211_213del
ENST00000610634.1:c.283_285del ENSP00000477517.1:p.Gly95del
NM_000314.5:c.385_387del NP_000305.3:p.Gly129del
NM_000314.6:c.385_387del NP_000305.3:p.Gly129del
NM_001304717.2:c.904_906del NP_001291646.2:p.Gly302del
NM_001304718.1:c.-366_-364del NP_001291647.1:n.-366_-364del
XM_006717926.2:c.340_342del XP_006717989.1:p.Gly114del
XM_011539981.1:c.385_387del XP_011538283.1:p.Gly129del
XM_011539982.1:c.289_291del XP_011538284.1:p.Gly97del
XR_945789.1:n.1097_1099del
XR_945790.1:n.1097_1099del
XR_945791.1:n.1097_1099del
NM_000314.7:c.385_387del NP_000305.3:p.Gly129del
NM_001304717.5:c.904_906del NP_001291646.4:p.Gly302del
NM_001304718.2:c.-366_-364del NP_001291647.1:n.-366_-364del
NM_000314.8:c.385_387del MANE Select NP_000305.3:p.Gly129del