Canonical Allele Identifier: CA658656090
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 468684
ClinVar RCV Id: RCV000555546
dbSNP Id: rs1554898150

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933158_87933162del , CM000672.2:g.87933158_87933162del GRCh38
NC_000010.10:g.89692915_89692919del , CM000672.1:g.89692915_89692919del GRCh37
NC_000010.9:g.89682895_89682899del NCBI36
NG_007466.2:g.74720_74724del , LRG_311:g.74720_74724del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.399_403del ENSP00000514759.2:p.Ile135CysfsTer?
ENST00000710265.1:c.399_403del ENSP00000518161.1:p.Ile135CysfsTer?
ENST00000472832.3:c.399_403del ENSP00000483066.2:p.Ile135CysfsTer?
ENST00000688158.2:n.1134_1138del
ENST00000688922.2:c.*229_*233del ENSP00000508742.2:n.*229_*233del
ENST00000700021.1:c.354_358del ENSP00000514757.1:p.Ile120CysfsTer?
ENST00000700022.1:c.399_403del ENSP00000514758.1:p.Ile135CysfsTer?
ENST00000700029.1:c.233_237del
ENST00000706954.1:c.399_403del ENSP00000516674.1:p.Ile135CysfsTer?
ENST00000706955.1:c.*434_*438del ENSP00000516675.1:n.*434_*438del
ENST00000686459.1:c.399_403del ENSP00000508909.1:p.Ile135CysfsTer?
ENST00000688158.1:c.*510_*514del ENSP00000509254.1:n.*510_*514del
ENST00000688308.1:c.399_403del ENSP00000508752.1:p.Ile135CysfsTer?
ENST00000688922.1:c.320_324del
ENST00000693560.1:c.918_922del ENSP00000509861.1:p.Ile308CysfsTer?
ENST00000371953.8:c.399_403del MANE Select ENSP00000361021.3:p.Ile135CysfsTer?
ENST00000371953.7:c.399_403del ENSP00000361021.3:p.Ile135CysfsTer?
ENST00000498703.1:n.225_229del
ENST00000610634.1:c.297_301del ENSP00000477517.1:p.Ile101CysfsTer?
NM_000314.5:c.399_403del NP_000305.3:p.Ile135CysfsTer?
NM_000314.6:c.399_403del NP_000305.3:p.Ile135CysfsTer?
NM_001304717.2:c.918_922del NP_001291646.2:p.Ile308CysfsTer?
NM_001304718.1:c.-352_-348del NP_001291647.1:n.-352_-348del
XM_006717926.2:c.354_358del XP_006717989.1:p.Ile120CysfsTer?
XM_011539981.1:c.399_403del XP_011538283.1:p.Ile135CysfsTer?
XM_011539982.1:c.303_307del XP_011538284.1:p.Ile103CysfsTer?
XR_945789.1:n.1111_1115del
XR_945790.1:n.1111_1115del
XR_945791.1:n.1111_1115del
NM_000314.7:c.399_403del NP_000305.3:p.Ile135CysfsTer?
NM_001304717.5:c.918_922del NP_001291646.4:p.Ile308CysfsTer?
NM_001304718.2:c.-352_-348del NP_001291647.1:n.-352_-348del
NM_000314.8:c.399_403del MANE Select NP_000305.3:p.Ile135CysfsTer?