Canonical Allele Identifier: CA2497028750
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925545_87925549del , CM000672.2:g.87925545_87925549del GRCh38
NC_000010.10:g.89685302_89685306del , CM000672.1:g.89685302_89685306del GRCh37
NC_000010.9:g.89675282_89675286del NCBI36
NG_007466.2:g.67107_67111del , LRG_311:g.67107_67111del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.197_201del ENSP00000514759.2:p.Lys66IlefsTer6
ENST00000710265.1:c.197_201del ENSP00000518161.1:p.Lys66IlefsTer6
ENST00000472832.3:c.197_201del ENSP00000483066.2:p.Lys66IlefsTer6
ENST00000688158.2:n.932_936del
ENST00000688922.2:c.197_201del ENSP00000508742.2:p.Lys66IlefsTer14
ENST00000700021.1:c.165-5501_165-5497del ENSP00000514757.1:n.165-5501_165-5497del
ENST00000700022.1:c.197_201del ENSP00000514758.1:p.Lys66IlefsTer6
ENST00000700029.1:c.31_35del
ENST00000706954.1:c.197_201del ENSP00000516674.1:p.Lys66IlefsTer6
ENST00000706955.1:c.*232_*236del ENSP00000516675.1:n.*232_*236del
ENST00000686459.1:c.197_201del ENSP00000508909.1:p.Lys66IlefsTer6
ENST00000688158.1:c.*308_*312del ENSP00000509254.1:n.*308_*312del
ENST00000688308.1:c.197_201del ENSP00000508752.1:p.Lys66IlefsTer6
ENST00000688922.1:c.66_70del
ENST00000693560.1:c.716_720del ENSP00000509861.1:p.Lys239IlefsTer6
ENST00000371953.8:c.197_201del MANE Select ENSP00000361021.3:p.Lys66IlefsTer6
ENST00000371953.7:c.197_201del ENSP00000361021.3:p.Lys66IlefsTer6
ENST00000498703.1:n.23_27del
ENST00000610634.1:c.95_99del ENSP00000477517.1:p.Lys32IlefsTer6
NM_000314.5:c.197_201del NP_000305.3:p.Lys66IlefsTer6
NM_000314.6:c.197_201del NP_000305.3:p.Lys66IlefsTer6
NM_001304717.2:c.716_720del NP_001291646.2:p.Lys239IlefsTer6
NM_001304718.1:c.-541-5501_-541-5497del NP_001291647.1:n.-541-5501_-541-5497del
XM_006717926.2:c.165-5501_165-5497del XP_006717989.1:n.165-5501_165-5497del
XM_011539981.1:c.197_201del XP_011538283.1:p.Lys66IlefsTer6
XM_011539982.1:c.101_105del XP_011538284.1:p.Lys34IlefsTer6
XR_945789.1:n.909_913del
XR_945790.1:n.909_913del
XR_945791.1:n.909_913del
NM_000314.7:c.197_201del NP_000305.3:p.Lys66IlefsTer6
NM_001304717.5:c.716_720del NP_001291646.4:p.Lys239IlefsTer6
NM_001304718.2:c.-541-5501_-541-5497del NP_001291647.1:n.-541-5501_-541-5497del
NM_000314.8:c.197_201del MANE Select NP_000305.3:p.Lys66IlefsTer6