Canonical Allele Identifier: CA000435
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 192224
dbSNP Id: rs121913292
COSMIC: COSM5817

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933148del , CM000672.2:g.87933148del GRCh38
NC_000010.10:g.89692905del , CM000672.1:g.89692905del GRCh37
NC_000010.9:g.89682885del NCBI36
NG_007466.2:g.74710del , LRG_311:g.74710del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.389del ENSP00000514759.2:p.Arg130GlnfsTer4
ENST00000710265.1:c.389del ENSP00000518161.1:p.Arg130GlnfsTer4
ENST00000472832.3:c.389del ENSP00000483066.2:p.Arg130GlnfsTer4
ENST00000688158.2:n.1124del
ENST00000688922.2:c.*219del ENSP00000508742.2:n.*219del
ENST00000700021.1:c.344del ENSP00000514757.1:p.Arg115GlnfsTer4
ENST00000700022.1:c.389del ENSP00000514758.1:p.Arg130GlnfsTer4
ENST00000700029.1:c.223del
ENST00000706954.1:c.389del ENSP00000516674.1:p.Arg130GlnfsTer4
ENST00000706955.1:c.*424del ENSP00000516675.1:n.*424del
ENST00000686459.1:c.389del ENSP00000508909.1:p.Arg130GlnfsTer4
ENST00000688158.1:c.*500del ENSP00000509254.1:n.*500del
ENST00000688308.1:c.389del ENSP00000508752.1:p.Arg130GlnfsTer4
ENST00000688922.1:c.310del
ENST00000693560.1:c.908del ENSP00000509861.1:p.Arg303GlnfsTer4
ENST00000371953.8:c.389del MANE Select ENSP00000361021.3:p.Arg130GlnfsTer4
ENST00000371953.7:c.389del ENSP00000361021.3:p.Arg130GlnfsTer4
ENST00000498703.1:n.215del
ENST00000610634.1:c.287del ENSP00000477517.1:p.Arg96GlnfsTer4
NM_000314.5:c.389del NP_000305.3:p.Arg130GlnfsTer4
NM_000314.6:c.389del NP_000305.3:p.Arg130GlnfsTer4
NM_001304717.2:c.908del NP_001291646.2:p.Arg303GlnfsTer4
NM_001304718.1:c.-362del NP_001291647.1:n.-362del
XM_006717926.2:c.344del XP_006717989.1:p.Arg115GlnfsTer4
XM_011539981.1:c.389del XP_011538283.1:p.Arg130GlnfsTer4
XM_011539982.1:c.293del XP_011538284.1:p.Arg98GlnfsTer4
XR_945789.1:n.1101del
XR_945790.1:n.1101del
XR_945791.1:n.1101del
NM_000314.7:c.389del NP_000305.3:p.Arg130GlnfsTer4
NM_001304717.5:c.908del NP_001291646.4:p.Arg303GlnfsTer4
NM_001304718.2:c.-362del NP_001291647.1:n.-362del
NM_000314.8:c.389del MANE Select NP_000305.3:p.Arg130GlnfsTer4