Canonical Allele Identifier: CA470669985
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132277648
COSMIC: COSM921131
MyVariant Identifiers: chr10:g.89717749del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957993del , CM000672.2:g.87957993del GRCh38
NC_000010.10:g.89717750del , CM000672.1:g.89717750del GRCh37
NC_000010.9:g.89707730del NCBI36
NG_007466.2:g.99555del , LRG_311:g.99555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.775del ENSP00000514759.2:p.His259ThrfsTer7
ENST00000710265.1:c.775del ENSP00000518161.1:p.His259ThrfsTer7
ENST00000472832.3:c.775del ENSP00000483066.2:p.His259ThrfsTer7
ENST00000688158.2:n.1510del
ENST00000688922.2:c.*605del ENSP00000508742.2:n.*605del
ENST00000700021.1:c.730del ENSP00000514757.1:p.His244ThrfsTer7
ENST00000700022.1:c.*114del ENSP00000514758.1:n.*114del
ENST00000700023.1:n.1933del
ENST00000700024.1:n.2167del
ENST00000700025.1:n.1544del
ENST00000700026.1:n.412del
ENST00000700029.1:c.609del
ENST00000706954.1:c.775del ENSP00000516674.1:p.His259ThrfsTer7
ENST00000706955.1:c.*810del ENSP00000516675.1:n.*810del
ENST00000686459.1:c.*361del ENSP00000508909.1:n.*361del
ENST00000688158.1:c.*886del ENSP00000509254.1:n.*886del
ENST00000688308.1:c.775del ENSP00000508752.1:p.His259ThrfsTer7
ENST00000688922.1:c.696del
ENST00000693560.1:c.1294del ENSP00000509861.1:p.His432ThrfsTer7
ENST00000371953.8:c.775del MANE Select ENSP00000361021.3:p.His259ThrfsTer7
ENST00000371953.7:c.775del ENSP00000361021.3:p.His259ThrfsTer7
ENST00000472832.2:c.202del ENSP00000483066.1:p.His68ThrfsTer7
NM_000314.5:c.775del NP_000305.3:p.His259ThrfsTer7
NM_000314.6:c.775del NP_000305.3:p.His259ThrfsTer7
NM_001304717.2:c.1294del NP_001291646.2:p.His432ThrfsTer7
NM_001304718.1:c.184del NP_001291647.1:p.His62ThrfsTer7
XM_006717926.2:c.730del XP_006717989.1:p.His244ThrfsTer7
XM_011539981.1:c.775del XP_011538283.1:p.His259ThrfsTer7
XM_011539982.1:c.679del XP_011538284.1:p.His227ThrfsTer7
XR_945791.1:n.1345del
NM_000314.7:c.775del NP_000305.3:p.His259ThrfsTer7
NM_001304717.5:c.1294del NP_001291646.4:p.His432ThrfsTer7
NM_001304718.2:c.184del NP_001291647.1:p.His62ThrfsTer7
NM_000314.8:c.775del MANE Select NP_000305.3:p.His259ThrfsTer7