Canonical Allele Identifier: CA16613255
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 404148
ClinVar RCV Id: RCV000472026
dbSNP Id: rs1060500114
COSMIC: COSM921118

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952254del , CM000672.2:g.87952254del GRCh38
NC_000010.10:g.89712011del , CM000672.1:g.89712011del GRCh37
NC_000010.9:g.89701991del NCBI36
NG_007466.2:g.93816del , LRG_311:g.93816del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.629del ENSP00000514759.2:p.Thr210IlefsTer11
ENST00000710265.1:c.629del ENSP00000518161.1:p.Thr210IlefsTer11
ENST00000472832.3:c.629del ENSP00000483066.2:p.Thr210IlefsTer11
ENST00000688158.2:n.1364del
ENST00000688922.2:c.*459del ENSP00000508742.2:n.*459del
ENST00000700021.1:c.584del ENSP00000514757.1:p.Thr195IlefsTer11
ENST00000700022.1:c.493-5599del ENSP00000514758.1:n.493-5599del
ENST00000700023.1:n.1787del
ENST00000700024.1:n.2021del
ENST00000700025.1:n.1398del
ENST00000700029.1:c.463del
ENST00000706954.1:c.629del ENSP00000516674.1:p.Thr210IlefsTer11
ENST00000706955.1:c.*664del ENSP00000516675.1:n.*664del
ENST00000686459.1:c.*215del ENSP00000508909.1:n.*215del
ENST00000688158.1:c.*740del ENSP00000509254.1:n.*740del
ENST00000688308.1:c.629del ENSP00000508752.1:p.Thr210IlefsTer11
ENST00000688922.1:c.550del
ENST00000693560.1:c.1148del ENSP00000509861.1:p.Thr383IlefsTer11
ENST00000371953.8:c.629del MANE Select ENSP00000361021.3:p.Thr210IlefsTer11
ENST00000371953.7:c.629del ENSP00000361021.3:p.Thr210IlefsTer11
ENST00000472832.2:c.56del ENSP00000483066.1:p.Thr19IlefsTer11
NM_000314.5:c.629del NP_000305.3:p.Thr210IlefsTer11
NM_000314.6:c.629del NP_000305.3:p.Thr210IlefsTer11
NM_001304717.2:c.1148del NP_001291646.2:p.Thr383IlefsTer11
NM_001304718.1:c.38del NP_001291647.1:p.Thr13IlefsTer11
XM_006717926.2:c.584del XP_006717989.1:p.Thr195IlefsTer11
XM_011539981.1:c.629del XP_011538283.1:p.Thr210IlefsTer11
XM_011539982.1:c.533del XP_011538284.1:p.Thr178IlefsTer11
XR_945791.1:n.1205-5599del
NM_000314.7:c.629del NP_000305.3:p.Thr210IlefsTer11
NM_001304717.5:c.1148del NP_001291646.4:p.Thr383IlefsTer11
NM_001304718.2:c.38del NP_001291647.1:p.Thr13IlefsTer11
NM_000314.8:c.629del MANE Select NP_000305.3:p.Thr210IlefsTer11