Canonical Allele Identifier: CA645554053
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957973del , CM000672.2:g.87957973del GRCh38
NC_000010.10:g.89717730del , CM000672.1:g.89717730del GRCh37
NC_000010.9:g.89707710del NCBI36
NG_007466.2:g.99535del , LRG_311:g.99535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.755del ENSP00000514759.2:p.Asp252ValfsTer4
ENST00000710265.1:c.755del ENSP00000518161.1:p.Asp252ValfsTer4
ENST00000472832.3:c.755del ENSP00000483066.2:p.Asp252ValfsTer4
ENST00000688158.2:n.1490del
ENST00000688922.2:c.*585del ENSP00000508742.2:n.*585del
ENST00000700021.1:c.710del ENSP00000514757.1:p.Asp237ValfsTer4
ENST00000700022.1:c.*94del ENSP00000514758.1:n.*94del
ENST00000700023.1:n.1913del
ENST00000700024.1:n.2147del
ENST00000700025.1:n.1524del
ENST00000700026.1:n.392del
ENST00000700029.1:c.589del
ENST00000706954.1:c.755del ENSP00000516674.1:p.Asp252ValfsTer4
ENST00000706955.1:c.*790del ENSP00000516675.1:n.*790del
ENST00000686459.1:c.*341del ENSP00000508909.1:n.*341del
ENST00000688158.1:c.*866del ENSP00000509254.1:n.*866del
ENST00000688308.1:c.755del ENSP00000508752.1:p.Asp252ValfsTer4
ENST00000688922.1:c.676del
ENST00000693560.1:c.1274del ENSP00000509861.1:p.Asp425ValfsTer4
ENST00000371953.8:c.755del MANE Select ENSP00000361021.3:p.Asp252ValfsTer4
ENST00000371953.7:c.755del ENSP00000361021.3:p.Asp252ValfsTer4
ENST00000472832.2:c.182del ENSP00000483066.1:p.Asp61ValfsTer4
NM_000314.5:c.755del NP_000305.3:p.Asp252ValfsTer4
NM_000314.6:c.755del NP_000305.3:p.Asp252ValfsTer4
NM_001304717.2:c.1274del NP_001291646.2:p.Asp425ValfsTer4
NM_001304718.1:c.164del NP_001291647.1:p.Asp55ValfsTer4
XM_006717926.2:c.710del XP_006717989.1:p.Asp237ValfsTer4
XM_011539981.1:c.755del XP_011538283.1:p.Asp252ValfsTer4
XM_011539982.1:c.659del XP_011538284.1:p.Asp220ValfsTer4
XR_945791.1:n.1325del
NM_000314.7:c.755del NP_000305.3:p.Asp252ValfsTer4
NM_001304717.5:c.1274del NP_001291646.4:p.Asp425ValfsTer4
NM_001304718.2:c.164del NP_001291647.1:p.Asp55ValfsTer4
NM_000314.8:c.755del MANE Select NP_000305.3:p.Asp252ValfsTer4