Canonical Allele Identifier: CA645553895
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM28437

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952155_87952156del , CM000672.2:g.87952155_87952156del GRCh38
NC_000010.10:g.89711912_89711913del , CM000672.1:g.89711912_89711913del GRCh37
NC_000010.9:g.89701892_89701893del NCBI36
NG_007466.2:g.93717_93718del , LRG_311:g.93717_93718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.530_531del ENSP00000514759.2:p.Tyr177LeufsTer2
ENST00000710265.1:c.530_531del ENSP00000518161.1:p.Tyr177LeufsTer2
ENST00000472832.3:c.530_531del ENSP00000483066.2:p.Tyr177LeufsTer2
ENST00000688158.2:n.1265_1266del
ENST00000688922.2:c.*360_*361del ENSP00000508742.2:n.*360_*361del
ENST00000700021.1:c.485_486del ENSP00000514757.1:p.Tyr162LeufsTer2
ENST00000700022.1:c.493-5698_493-5697del ENSP00000514758.1:n.493-5698_493-5697del
ENST00000700023.1:n.1688_1689del
ENST00000700024.1:n.1922_1923del
ENST00000700025.1:n.1299_1300del
ENST00000700029.1:c.364_365del
ENST00000706954.1:c.530_531del ENSP00000516674.1:p.Tyr177LeufsTer2
ENST00000706955.1:c.*565_*566del ENSP00000516675.1:n.*565_*566del
ENST00000686459.1:c.*116_*117del ENSP00000508909.1:n.*116_*117del
ENST00000688158.1:c.*641_*642del ENSP00000509254.1:n.*641_*642del
ENST00000688308.1:c.530_531del ENSP00000508752.1:p.Tyr177LeufsTer2
ENST00000688922.1:c.451_452del
ENST00000693560.1:c.1049_1050del ENSP00000509861.1:p.Tyr350LeufsTer2
ENST00000371953.8:c.530_531del MANE Select ENSP00000361021.3:p.Tyr177LeufsTer2
ENST00000371953.7:c.530_531del ENSP00000361021.3:p.Tyr177LeufsTer2
NM_000314.5:c.530_531del NP_000305.3:p.Tyr177LeufsTer2
NM_000314.6:c.530_531del NP_000305.3:p.Tyr177LeufsTer2
NM_001304717.2:c.1049_1050del NP_001291646.2:p.Tyr350LeufsTer2
NM_001304718.1:c.-62_-61del NP_001291647.1:n.-62_-61del
XM_006717926.2:c.485_486del XP_006717989.1:p.Tyr162LeufsTer2
XM_011539981.1:c.530_531del XP_011538283.1:p.Tyr177LeufsTer2
XM_011539982.1:c.434_435del XP_011538284.1:p.Tyr145LeufsTer2
XR_945789.1:n.1401_1402del
XR_945790.1:n.1518_1519del
XR_945791.1:n.1205-5698_1205-5697del
NM_000314.7:c.530_531del NP_000305.3:p.Tyr177LeufsTer2
NM_001304717.5:c.1049_1050del NP_001291646.4:p.Tyr350LeufsTer2
NM_001304718.2:c.-62_-61del NP_001291647.1:n.-62_-61del
NM_000314.8:c.530_531del MANE Select NP_000305.3:p.Tyr177LeufsTer2