Canonical Allele Identifier: CA2579926465
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965406_87965408del , CM000672.2:g.87965406_87965408del GRCh38
NC_000010.10:g.89725163_89725165del , CM000672.1:g.89725163_89725165del GRCh37
NC_000010.9:g.89715143_89715145del NCBI36
NG_007466.2:g.106968_106970del , LRG_311:g.106968_106970del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1239_1241del ENSP00000514759.2:p.Thr414del
ENST00000710265.1:c.*175_*177del ENSP00000518161.1:n.*175_*177del
ENST00000688158.2:n.1881_1883del
ENST00000688922.2:c.*976_*978del ENSP00000508742.2:n.*976_*978del
ENST00000700021.1:c.1101_1103del ENSP00000514757.1:p.Thr368del
ENST00000700022.1:c.*485_*487del ENSP00000514758.1:n.*485_*487del
ENST00000700023.1:n.2304_2306del
ENST00000700024.1:n.2538_2540del
ENST00000706954.1:c.1146_1148del ENSP00000516674.1:p.Thr383del
ENST00000706955.1:c.*1181_*1183del ENSP00000516675.1:n.*1181_*1183del
ENST00000686459.1:c.*732_*734del ENSP00000508909.1:n.*732_*734del
ENST00000688158.1:c.*1257_*1259del ENSP00000509254.1:n.*1257_*1259del
ENST00000688308.1:c.1146_1148del ENSP00000508752.1:p.Thr383del
ENST00000688922.1:c.1067_1069del
ENST00000693560.1:c.1665_1667del ENSP00000509861.1:p.Thr556del
ENST00000371953.8:c.1146_1148del MANE Select ENSP00000361021.3:p.Thr383del
ENST00000371953.7:c.1146_1148del ENSP00000361021.3:p.Thr383del
NM_000314.5:c.1146_1148del NP_000305.3:p.Thr383del
NM_000314.6:c.1146_1148del NP_000305.3:p.Thr383del
NM_001304717.2:c.1665_1667del NP_001291646.2:p.Thr556del
NM_001304718.1:c.555_557del NP_001291647.1:p.Thr186del
XM_006717926.2:c.1101_1103del XP_006717989.1:p.Thr368del
XM_011539982.1:c.1050_1052del XP_011538284.1:p.Thr351del
XR_945791.1:n.1716_1718del
NM_000314.7:c.1146_1148del NP_000305.3:p.Thr383del
NM_001304717.5:c.1665_1667del NP_001291646.4:p.Thr556del
NM_001304718.2:c.555_557del NP_001291647.1:p.Thr186del
NM_000314.8:c.1146_1148del MANE Select NP_000305.3:p.Thr383del