Canonical Allele Identifier: CA2695200888
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2674352
ClinVar RCV Id: RCV003452548

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958007del , CM000672.2:g.87958007del GRCh38
NC_000010.10:g.89717764del , CM000672.1:g.89717764del GRCh37
NC_000010.9:g.89707744del NCBI36
NG_007466.2:g.99569del , LRG_311:g.99569del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.789del ENSP00000514759.2:p.Met264CysfsTer2
ENST00000710265.1:c.789del ENSP00000518161.1:p.Met264CysfsTer2
ENST00000472832.3:c.789del ENSP00000483066.2:p.Met264CysfsTer2
ENST00000688158.2:n.1524del
ENST00000688922.2:c.*619del ENSP00000508742.2:n.*619del
ENST00000700021.1:c.744del ENSP00000514757.1:p.Met249CysfsTer2
ENST00000700022.1:c.*128del ENSP00000514758.1:n.*128del
ENST00000700023.1:n.1947del
ENST00000700024.1:n.2181del
ENST00000700025.1:n.1558del
ENST00000700026.1:n.426del
ENST00000700029.1:c.623del
ENST00000706954.1:c.789del ENSP00000516674.1:p.Met264CysfsTer2
ENST00000706955.1:c.*824del ENSP00000516675.1:n.*824del
ENST00000686459.1:c.*375del ENSP00000508909.1:n.*375del
ENST00000688158.1:c.*900del ENSP00000509254.1:n.*900del
ENST00000688308.1:c.789del ENSP00000508752.1:p.Met264CysfsTer2
ENST00000688922.1:c.710del
ENST00000693560.1:c.1308del ENSP00000509861.1:p.Met437CysfsTer2
ENST00000371953.8:c.789del MANE Select ENSP00000361021.3:p.Met264CysfsTer2
ENST00000371953.7:c.789del ENSP00000361021.3:p.Met264CysfsTer2
ENST00000472832.2:c.216del ENSP00000483066.1:p.Met73CysfsTer2
NM_000314.5:c.789del NP_000305.3:p.Met264CysfsTer2
NM_000314.6:c.789del NP_000305.3:p.Met264CysfsTer2
NM_001304717.2:c.1308del NP_001291646.2:p.Met437CysfsTer2
NM_001304718.1:c.198del NP_001291647.1:p.Met67CysfsTer2
XM_006717926.2:c.744del XP_006717989.1:p.Met249CysfsTer2
XM_011539981.1:c.789del XP_011538283.1:p.Met264CysfsTer2
XM_011539982.1:c.693del XP_011538284.1:p.Met232CysfsTer2
XR_945791.1:n.1359del
NM_000314.7:c.789del NP_000305.3:p.Met264CysfsTer2
NM_001304717.5:c.1308del NP_001291646.4:p.Met437CysfsTer2
NM_001304718.2:c.198del NP_001291647.1:p.Met67CysfsTer2
NM_000314.8:c.789del MANE Select NP_000305.3:p.Met264CysfsTer2