Canonical Allele Identifier: CA2579926413
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965396_87965398del , CM000672.2:g.87965396_87965398del GRCh38
NC_000010.10:g.89725153_89725155del , CM000672.1:g.89725153_89725155del GRCh37
NC_000010.9:g.89715133_89715135del NCBI36
NG_007466.2:g.106958_106960del , LRG_311:g.106958_106960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1229_1231del ENSP00000514759.2:p.Tyr410del
ENST00000710265.1:c.*165_*167del ENSP00000518161.1:n.*165_*167del
ENST00000688158.2:n.1871_1873del
ENST00000688922.2:c.*966_*968del ENSP00000508742.2:n.*966_*968del
ENST00000700021.1:c.1091_1093del ENSP00000514757.1:p.Tyr364del
ENST00000700022.1:c.*475_*477del ENSP00000514758.1:n.*475_*477del
ENST00000700023.1:n.2294_2296del
ENST00000700024.1:n.2528_2530del
ENST00000706954.1:c.1136_1138del ENSP00000516674.1:p.Tyr379del
ENST00000706955.1:c.*1171_*1173del ENSP00000516675.1:n.*1171_*1173del
ENST00000686459.1:c.*722_*724del ENSP00000508909.1:n.*722_*724del
ENST00000688158.1:c.*1247_*1249del ENSP00000509254.1:n.*1247_*1249del
ENST00000688308.1:c.1136_1138del ENSP00000508752.1:p.Tyr379del
ENST00000688922.1:c.1057_1059del
ENST00000693560.1:c.1655_1657del ENSP00000509861.1:p.Tyr552del
ENST00000371953.8:c.1136_1138del MANE Select ENSP00000361021.3:p.Tyr379del
ENST00000371953.7:c.1136_1138del ENSP00000361021.3:p.Tyr379del
NM_000314.5:c.1136_1138del NP_000305.3:p.Tyr379del
NM_000314.6:c.1136_1138del NP_000305.3:p.Tyr379del
NM_001304717.2:c.1655_1657del NP_001291646.2:p.Tyr552del
NM_001304718.1:c.545_547del NP_001291647.1:p.Tyr182del
XM_006717926.2:c.1091_1093del XP_006717989.1:p.Tyr364del
XM_011539982.1:c.1040_1042del XP_011538284.1:p.Tyr347del
XR_945791.1:n.1706_1708del
NM_000314.7:c.1136_1138del NP_000305.3:p.Tyr379del
NM_001304717.5:c.1655_1657del NP_001291646.4:p.Tyr552del
NM_001304718.2:c.545_547del NP_001291647.1:p.Tyr182del
NM_000314.8:c.1136_1138del MANE Select NP_000305.3:p.Tyr379del