Canonical Allele Identifier: CA2579926456
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965410_87965412del , CM000672.2:g.87965410_87965412del GRCh38
NC_000010.10:g.89725167_89725169del , CM000672.1:g.89725167_89725169del GRCh37
NC_000010.9:g.89715147_89715149del NCBI36
NG_007466.2:g.106972_106974del , LRG_311:g.106972_106974del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1243_1245del ENSP00000514759.2:p.Asp415del
ENST00000710265.1:c.*179_*181del ENSP00000518161.1:n.*179_*181del
ENST00000688158.2:n.1885_1887del
ENST00000688922.2:c.*980_*982del ENSP00000508742.2:n.*980_*982del
ENST00000700021.1:c.1105_1107del ENSP00000514757.1:p.Asp369del
ENST00000700022.1:c.*489_*491del ENSP00000514758.1:n.*489_*491del
ENST00000700023.1:n.2308_2310del
ENST00000700024.1:n.2542_2544del
ENST00000706954.1:c.1150_1152del ENSP00000516674.1:p.Asp384del
ENST00000706955.1:c.*1185_*1187del ENSP00000516675.1:n.*1185_*1187del
ENST00000686459.1:c.*736_*738del ENSP00000508909.1:n.*736_*738del
ENST00000688158.1:c.*1261_*1263del ENSP00000509254.1:n.*1261_*1263del
ENST00000688308.1:c.1150_1152del ENSP00000508752.1:p.Asp384del
ENST00000688922.1:c.1071_1073del
ENST00000693560.1:c.1669_1671del ENSP00000509861.1:p.Asp557del
ENST00000371953.8:c.1150_1152del MANE Select ENSP00000361021.3:p.Asp384del
ENST00000371953.7:c.1150_1152del ENSP00000361021.3:p.Asp384del
NM_000314.5:c.1150_1152del NP_000305.3:p.Asp384del
NM_000314.6:c.1150_1152del NP_000305.3:p.Asp384del
NM_001304717.2:c.1669_1671del NP_001291646.2:p.Asp557del
NM_001304718.1:c.559_561del NP_001291647.1:p.Asp187del
XM_006717926.2:c.1105_1107del XP_006717989.1:p.Asp369del
XM_011539982.1:c.1054_1056del XP_011538284.1:p.Asp352del
XR_945791.1:n.1720_1722del
NM_000314.7:c.1150_1152del NP_000305.3:p.Asp384del
NM_001304717.5:c.1669_1671del NP_001291646.4:p.Asp557del
NM_001304718.2:c.559_561del NP_001291647.1:p.Asp187del
NM_000314.8:c.1150_1152del MANE Select NP_000305.3:p.Asp384del