Canonical Allele Identifier: CA2722434362
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132290354

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965460del , CM000672.2:g.87965460del GRCh38
NC_000010.10:g.89725217del , CM000672.1:g.89725217del GRCh37
NC_000010.9:g.89715197del NCBI36
NG_007466.2:g.107022del , LRG_311:g.107022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1293del ENSP00000514759.2:p.Thr432GlnfsTer15
ENST00000710265.1:c.*229del ENSP00000518161.1:n.*229del
ENST00000688158.2:n.1935del
ENST00000688922.2:c.*1030del ENSP00000508742.2:n.*1030del
ENST00000700021.1:c.1155del ENSP00000514757.1:p.Thr386GlnfsTer15
ENST00000700022.1:c.*539del ENSP00000514758.1:n.*539del
ENST00000700023.1:n.2358del
ENST00000700024.1:n.2592del
ENST00000706954.1:c.1200del ENSP00000516674.1:p.Thr401GlnfsTer15
ENST00000706955.1:c.*1235del ENSP00000516675.1:n.*1235del
ENST00000686459.1:c.*786del ENSP00000508909.1:n.*786del
ENST00000688158.1:c.*1311del ENSP00000509254.1:n.*1311del
ENST00000688308.1:c.1200del ENSP00000508752.1:p.Thr401GlnfsTer15
ENST00000688922.1:c.1121del
ENST00000693560.1:c.1719del ENSP00000509861.1:p.Thr574GlnfsTer15
ENST00000371953.8:c.1200del MANE Select ENSP00000361021.3:p.Thr401GlnfsTer15
ENST00000371953.7:c.1200del ENSP00000361021.3:p.Thr401GlnfsTer15
NM_000314.5:c.1200del NP_000305.3:p.Thr401GlnfsTer15
NM_000314.6:c.1200del NP_000305.3:p.Thr401GlnfsTer15
NM_001304717.2:c.1719del NP_001291646.2:p.Thr574GlnfsTer15
NM_001304718.1:c.609del NP_001291647.1:p.Thr204GlnfsTer15
XM_006717926.2:c.1155del XP_006717989.1:p.Thr386GlnfsTer15
XM_011539982.1:c.1104del XP_011538284.1:p.Thr369GlnfsTer15
XR_945791.1:n.1770del
NM_000314.7:c.1200del NP_000305.3:p.Thr401GlnfsTer15
NM_001304717.5:c.1719del NP_001291646.4:p.Thr574GlnfsTer15
NM_001304718.2:c.609del NP_001291647.1:p.Thr204GlnfsTer15
NM_000314.8:c.1200del MANE Select NP_000305.3:p.Thr401GlnfsTer15