ClinGen Classification:
Classification
Uncertain Significance
Condition
PTEN hamartoma tumor syndrome
VCEP
PTEN VCEP
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933063_87933065dup , CM000672.2:g.87933063_87933065dup | GRCh38 |
| NC_000010.10:g.89692820_89692822dup , CM000672.1:g.89692820_89692822dup | GRCh37 |
| NC_000010.9:g.89682800_89682802dup | NCBI36 |
| NG_007466.2:g.74625_74627dup , LRG_311:g.74625_74627dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.304_306dup | ENSP00000514759.2:p.Lys102_Pro103insLys | |
| ENST00000710265.1:c.304_306dup | ENSP00000518161.1:p.Lys102_Pro103insLys | |
| ENST00000472832.3:c.304_306dup | ENSP00000483066.2:p.Lys102_Pro103insLys | |
| ENST00000688158.2:n.1039_1041dup | ||
| ENST00000688922.2:c.*134_*136dup | ENSP00000508742.2:n.*134_*136dup | |
| ENST00000700021.1:c.259_261dup | ENSP00000514757.1:p.Lys87_Pro88insLys | |
| ENST00000700022.1:c.304_306dup | ENSP00000514758.1:p.Lys102_Pro103insLys | |
| ENST00000700029.1:c.138_140dup | ||
| ENST00000706954.1:c.304_306dup | ENSP00000516674.1:p.Lys102_Pro103insLys | |
| ENST00000706955.1:c.*339_*341dup | ENSP00000516675.1:n.*339_*341dup | |
| ENST00000686459.1:c.304_306dup | ENSP00000508909.1:p.Lys102_Pro103insLys | |
| ENST00000688158.1:c.*415_*417dup | ENSP00000509254.1:n.*415_*417dup | |
| ENST00000688308.1:c.304_306dup | ENSP00000508752.1:p.Lys102_Pro103insLys | |
| ENST00000688922.1:c.225_227dup | ||
| ENST00000693560.1:c.823_825dup | ENSP00000509861.1:p.Lys275_Pro276insLys | |
| ENST00000371953.8:c.304_306dup MANE Select | ENSP00000361021.3:p.Lys102_Pro103insLys | |
| ENST00000371953.7:c.304_306dup | ENSP00000361021.3:p.Lys102_Pro103insLys | |
| ENST00000498703.1:n.130_132dup | ||
| ENST00000610634.1:c.202_204dup | ENSP00000477517.1:p.Lys68_Pro69insLys | |
| NM_000314.5:c.304_306dup | NP_000305.3:p.Lys102_Pro103insLys | |
| NM_000314.6:c.304_306dup | NP_000305.3:p.Lys102_Pro103insLys | |
| NM_001304717.2:c.823_825dup | NP_001291646.2:p.Lys275_Pro276insLys | |
| NM_001304718.1:c.-447_-445dup | NP_001291647.1:n.-447_-445dup | |
| XM_006717926.2:c.259_261dup | XP_006717989.1:p.Lys87_Pro88insLys | |
| XM_011539981.1:c.304_306dup | XP_011538283.1:p.Lys102_Pro103insLys | |
| XM_011539982.1:c.208_210dup | XP_011538284.1:p.Lys70_Pro71insLys | |
| XR_945789.1:n.1016_1018dup | ||
| XR_945790.1:n.1016_1018dup | ||
| XR_945791.1:n.1016_1018dup | ||
| NM_000314.7:c.304_306dup | NP_000305.3:p.Lys102_Pro103insLys | |
| NM_001304717.5:c.823_825dup | NP_001291646.4:p.Lys275_Pro276insLys | |
| NM_001304718.2:c.-447_-445dup | NP_001291647.1:n.-447_-445dup | |
| NM_000314.8:c.304_306dup MANE Select | NP_000305.3:p.Lys102_Pro103insLys |