Canonical Allele Identifier: CA2574455549
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957980del , CM000672.2:g.87957980del GRCh38
NC_000010.10:g.89717737del , CM000672.1:g.89717737del GRCh37
NC_000010.9:g.89707717del NCBI36
NG_007466.2:g.99542del , LRG_311:g.99542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.762del ENSP00000514759.2:p.Val255Ter
ENST00000710265.1:c.762del ENSP00000518161.1:p.Val255Ter
ENST00000472832.3:c.762del ENSP00000483066.2:p.Val255Ter
ENST00000688158.2:n.1497del
ENST00000688922.2:c.*592del ENSP00000508742.2:n.*592del
ENST00000700021.1:c.717del ENSP00000514757.1:p.Val240Ter
ENST00000700022.1:c.*101del ENSP00000514758.1:n.*101del
ENST00000700023.1:n.1920del
ENST00000700024.1:n.2154del
ENST00000700025.1:n.1531del
ENST00000700026.1:n.399del
ENST00000700029.1:c.596del
ENST00000706954.1:c.762del ENSP00000516674.1:p.Val255Ter
ENST00000706955.1:c.*797del ENSP00000516675.1:n.*797del
ENST00000686459.1:c.*348del ENSP00000508909.1:n.*348del
ENST00000688158.1:c.*873del ENSP00000509254.1:n.*873del
ENST00000688308.1:c.762del ENSP00000508752.1:p.Val255Ter
ENST00000688922.1:c.683del
ENST00000693560.1:c.1281del ENSP00000509861.1:p.Val428Ter
ENST00000371953.8:c.762del MANE Select ENSP00000361021.3:p.Val255Ter
ENST00000371953.7:c.762del ENSP00000361021.3:p.Val255Ter
ENST00000472832.2:c.189del ENSP00000483066.1:p.Val64Ter
NM_000314.5:c.762del NP_000305.3:p.Val255Ter
NM_000314.6:c.762del NP_000305.3:p.Val255Ter
NM_001304717.2:c.1281del NP_001291646.2:p.Val428Ter
NM_001304718.1:c.171del NP_001291647.1:p.Val58Ter
XM_006717926.2:c.717del XP_006717989.1:p.Val240Ter
XM_011539981.1:c.762del XP_011538283.1:p.Val255Ter
XM_011539982.1:c.666del XP_011538284.1:p.Val223Ter
XR_945791.1:n.1332del
NM_000314.7:c.762del NP_000305.3:p.Val255Ter
NM_001304717.5:c.1281del NP_001291646.4:p.Val428Ter
NM_001304718.2:c.171del NP_001291647.1:p.Val58Ter
NM_000314.8:c.762del MANE Select NP_000305.3:p.Val255Ter