ClinGen Classification:
Classification
Pathogenic
Condition
PTEN hamartoma tumor syndrome
VCEP
PTEN VCEP
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
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 |