Canonical Allele Identifier: CA2695200899
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2673951
ClinVar RCV Id: RCV003450559

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960942_87960952del , CM000672.2:g.87960942_87960952del GRCh38
NC_000010.10:g.89720699_89720709del , CM000672.1:g.89720699_89720709del GRCh37
NC_000010.9:g.89710679_89710689del NCBI36
NG_007466.2:g.102504_102514del , LRG_311:g.102504_102514del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.943_953del ENSP00000514759.2:p.Glu315ArgfsTer10
ENST00000710265.1:c.850_860del ENSP00000518161.1:p.Glu284ArgfsTer10
ENST00000472832.3:c.850_860del ENSP00000483066.2:p.Glu284ArgfsTer10
ENST00000688158.2:n.1585_1595del
ENST00000688922.2:c.*680_*690del ENSP00000508742.2:n.*680_*690del
ENST00000700021.1:c.805_815del ENSP00000514757.1:p.Glu269ArgfsTer10
ENST00000700022.1:c.*189_*199del ENSP00000514758.1:n.*189_*199del
ENST00000700023.1:n.2008_2018del
ENST00000700024.1:n.2242_2252del
ENST00000700025.1:n.1619_1629del
ENST00000700026.1:n.487_497del
ENST00000700029.1:c.777_787del
ENST00000706954.1:c.850_860del ENSP00000516674.1:p.Glu284ArgfsTer10
ENST00000706955.1:c.*885_*895del ENSP00000516675.1:n.*885_*895del
ENST00000686459.1:c.*436_*446del ENSP00000508909.1:n.*436_*446del
ENST00000688158.1:c.*961_*971del ENSP00000509254.1:n.*961_*971del
ENST00000688308.1:c.850_860del ENSP00000508752.1:p.Glu284ArgfsTer10
ENST00000688922.1:c.771_781del
ENST00000693560.1:c.1369_1379del ENSP00000509861.1:p.Glu457ArgfsTer10
ENST00000371953.8:c.850_860del MANE Select ENSP00000361021.3:p.Glu284ArgfsTer10
ENST00000371953.7:c.850_860del ENSP00000361021.3:p.Glu284ArgfsTer10
ENST00000472832.2:c.277_287del ENSP00000483066.1:p.Glu93ArgfsTer10
NM_000314.5:c.850_860del NP_000305.3:p.Glu284ArgfsTer10
NM_000314.6:c.850_860del NP_000305.3:p.Glu284ArgfsTer10
NM_001304717.2:c.1369_1379del NP_001291646.2:p.Glu457ArgfsTer10
NM_001304718.1:c.259_269del NP_001291647.1:p.Glu87ArgfsTer10
XM_006717926.2:c.805_815del XP_006717989.1:p.Glu269ArgfsTer10
XM_011539981.1:c.850_860del XP_011538283.1:p.Glu284ArgfsTer10
XM_011539982.1:c.754_764del XP_011538284.1:p.Glu252ArgfsTer10
XR_945791.1:n.1420_1430del
NM_000314.7:c.850_860del NP_000305.3:p.Glu284ArgfsTer10
NM_001304717.5:c.1369_1379del NP_001291646.4:p.Glu457ArgfsTer10
NM_001304718.2:c.259_269del NP_001291647.1:p.Glu87ArgfsTer10
NM_000314.8:c.850_860del MANE Select NP_000305.3:p.Glu284ArgfsTer10