Canonical Allele Identifier: CA000526
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 7823
dbSNP Id: rs587776670

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952211del , CM000672.2:g.87952211del GRCh38
NC_000010.10:g.89711968del , CM000672.1:g.89711968del GRCh37
NC_000010.9:g.89701948del NCBI36
NG_007466.2:g.93773del , LRG_311:g.93773del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.586del ENSP00000514759.2:p.His196ThrfsTer3
ENST00000710265.1:c.586del ENSP00000518161.1:p.His196ThrfsTer3
ENST00000472832.3:c.586del ENSP00000483066.2:p.His196ThrfsTer3
ENST00000688158.2:n.1321del
ENST00000688922.2:c.*416del ENSP00000508742.2:n.*416del
ENST00000700021.1:c.541del ENSP00000514757.1:p.His181ThrfsTer3
ENST00000700022.1:c.493-5642del ENSP00000514758.1:n.493-5642del
ENST00000700023.1:n.1744del
ENST00000700024.1:n.1978del
ENST00000700025.1:n.1355del
ENST00000700029.1:c.420del
ENST00000706954.1:c.586del ENSP00000516674.1:p.His196ThrfsTer3
ENST00000706955.1:c.*621del ENSP00000516675.1:n.*621del
ENST00000686459.1:c.*172del ENSP00000508909.1:n.*172del
ENST00000688158.1:c.*697del ENSP00000509254.1:n.*697del
ENST00000688308.1:c.586del ENSP00000508752.1:p.His196ThrfsTer3
ENST00000688922.1:c.507del
ENST00000693560.1:c.1105del ENSP00000509861.1:p.His369ThrfsTer3
ENST00000371953.8:c.586del MANE Select ENSP00000361021.3:p.His196ThrfsTer3
ENST00000371953.7:c.586del ENSP00000361021.3:p.His196ThrfsTer3
ENST00000472832.2:c.13del ENSP00000483066.1:p.His5ThrfsTer3
NM_000314.5:c.586del NP_000305.3:p.His196ThrfsTer3
NM_000314.6:c.586del NP_000305.3:p.His196ThrfsTer3
NM_001304717.2:c.1105del NP_001291646.2:p.His369ThrfsTer3
NM_001304718.1:c.-6del NP_001291647.1:n.-6del
XM_006717926.2:c.541del XP_006717989.1:p.His181ThrfsTer3
XM_011539981.1:c.586del XP_011538283.1:p.His196ThrfsTer3
XM_011539982.1:c.490del XP_011538284.1:p.His164ThrfsTer3
XR_945791.1:n.1205-5642del
NM_000314.7:c.586del NP_000305.3:p.His196ThrfsTer3
NM_001304717.5:c.1105del NP_001291646.4:p.His369ThrfsTer3
NM_001304718.2:c.-6del NP_001291647.1:n.-6del
NM_000314.8:c.586del MANE Select NP_000305.3:p.His196ThrfsTer3