Canonical Allele Identifier: CA1139661613
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 950002
ClinVar RCV Id: RCV001221612
dbSNP Id: rs1860633095

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961095del , CM000672.2:g.87961095del GRCh38
NC_000010.10:g.89720852del , CM000672.1:g.89720852del GRCh37
NC_000010.9:g.89710832del NCBI36
NG_007466.2:g.102657del , LRG_311:g.102657del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.1096del ENSP00000514759.2:p.Arg366AspfsTer9
ENST00000710265.1:c.1003del ENSP00000518161.1:p.Arg335AspfsTer12
ENST00000472832.3:c.1003del ENSP00000483066.2:p.Arg335AspfsTer28
ENST00000688158.2:n.1738del
ENST00000688922.2:c.*833del ENSP00000508742.2:n.*833del
ENST00000700021.1:c.958del ENSP00000514757.1:p.Arg320AspfsTer9
ENST00000700022.1:c.*342del ENSP00000514758.1:n.*342del
ENST00000700023.1:n.2161del
ENST00000700024.1:n.2395del
ENST00000700025.1:n.1772del
ENST00000700026.1:n.640del
ENST00000706954.1:c.1003del ENSP00000516674.1:p.Arg335AspfsTer9
ENST00000706955.1:c.*1038del ENSP00000516675.1:n.*1038del
ENST00000686459.1:c.*589del ENSP00000508909.1:n.*589del
ENST00000688158.1:c.*1114del ENSP00000509254.1:n.*1114del
ENST00000688308.1:c.1003del ENSP00000508752.1:p.Arg335AspfsTer9
ENST00000688922.1:c.924del
ENST00000693560.1:c.1522del ENSP00000509861.1:p.Arg508AspfsTer9
ENST00000371953.8:c.1003del MANE Select ENSP00000361021.3:p.Arg335AspfsTer9
ENST00000371953.7:c.1003del ENSP00000361021.3:p.Arg335AspfsTer9
ENST00000472832.2:c.430del ENSP00000483066.1:p.Arg144AspfsTer28
NM_000314.5:c.1003del NP_000305.3:p.Arg335AspfsTer9
NM_000314.6:c.1003del NP_000305.3:p.Arg335AspfsTer9
NM_001304717.2:c.1522del NP_001291646.2:p.Arg508AspfsTer9
NM_001304718.1:c.412del NP_001291647.1:p.Arg138AspfsTer9
XM_006717926.2:c.958del XP_006717989.1:p.Arg320AspfsTer9
XM_011539981.1:c.1003del XP_011538283.1:p.Arg335AspfsTer12
XM_011539982.1:c.907del XP_011538284.1:p.Arg303AspfsTer9
XR_945791.1:n.1573del
NM_000314.7:c.1003del NP_000305.3:p.Arg335AspfsTer9
NM_001304717.5:c.1522del NP_001291646.4:p.Arg508AspfsTer9
NM_001304718.2:c.412del NP_001291647.1:p.Arg138AspfsTer9
NM_000314.8:c.1003del MANE Select NP_000305.3:p.Arg335AspfsTer9