Canonical Allele Identifier: CA645294059
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 426411
ClinVar RCV Id: RCV000489822
dbSNP Id: rs1085307612

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961039del , CM000672.2:g.87961039del GRCh38
NC_000010.10:g.89720796del , CM000672.1:g.89720796del GRCh37
NC_000010.9:g.89710776del NCBI36
NG_007466.2:g.102601del , LRG_311:g.102601del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.1040del ENSP00000514759.2:p.Leu347GlnfsTer5
ENST00000710265.1:c.947del ENSP00000518161.1:p.Leu316GlnfsTer5
ENST00000472832.3:c.947del ENSP00000483066.2:p.Leu316GlnfsTer5
ENST00000688158.2:n.1682del
ENST00000688922.2:c.*777del ENSP00000508742.2:n.*777del
ENST00000700021.1:c.902del ENSP00000514757.1:p.Leu301GlnfsTer5
ENST00000700022.1:c.*286del ENSP00000514758.1:n.*286del
ENST00000700023.1:n.2105del
ENST00000700024.1:n.2339del
ENST00000700025.1:n.1716del
ENST00000700026.1:n.584del
ENST00000706954.1:c.947del ENSP00000516674.1:p.Leu316GlnfsTer5
ENST00000706955.1:c.*982del ENSP00000516675.1:n.*982del
ENST00000686459.1:c.*533del ENSP00000508909.1:n.*533del
ENST00000688158.1:c.*1058del ENSP00000509254.1:n.*1058del
ENST00000688308.1:c.947del ENSP00000508752.1:p.Leu316GlnfsTer5
ENST00000688922.1:c.868del
ENST00000693560.1:c.1466del ENSP00000509861.1:p.Leu489GlnfsTer5
ENST00000371953.8:c.947del MANE Select ENSP00000361021.3:p.Leu316GlnfsTer5
ENST00000371953.7:c.947del ENSP00000361021.3:p.Leu316GlnfsTer5
ENST00000472832.2:c.374del ENSP00000483066.1:p.Leu125GlnfsTer5
NM_000314.5:c.947del NP_000305.3:p.Leu316GlnfsTer5
NM_000314.6:c.947del NP_000305.3:p.Leu316GlnfsTer5
NM_001304717.2:c.1466del NP_001291646.2:p.Leu489GlnfsTer5
NM_001304718.1:c.356del NP_001291647.1:p.Leu119GlnfsTer5
XM_006717926.2:c.902del XP_006717989.1:p.Leu301GlnfsTer5
XM_011539981.1:c.947del XP_011538283.1:p.Leu316GlnfsTer5
XM_011539982.1:c.851del XP_011538284.1:p.Leu284GlnfsTer5
XR_945791.1:n.1517del
NM_000314.7:c.947del NP_000305.3:p.Leu316GlnfsTer5
NM_001304717.5:c.1466del NP_001291646.4:p.Leu489GlnfsTer5
NM_001304718.2:c.356del NP_001291647.1:p.Leu119GlnfsTer5
NM_000314.8:c.947del MANE Select NP_000305.3:p.Leu316GlnfsTer5