Canonical Allele Identifier: CA10582754
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 237640
ClinVar RCV Id: RCV000226096
dbSNP Id: rs878853933

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894077dup , CM000672.2:g.87894077dup GRCh38
NC_000010.10:g.89653834dup , CM000672.1:g.89653834dup GRCh37
NC_000010.9:g.89643814dup NCBI36
NG_007466.2:g.35639dup , LRG_311:g.35639dup

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.132dup ENSP00000514759.2:p.Val45ArgfsTer7
ENST00000710265.1:c.132dup ENSP00000518161.1:p.Val45ArgfsTer7
ENST00000472832.3:c.132dup ENSP00000483066.2:p.Val45ArgfsTer7
ENST00000688158.2:n.899+13639dup
ENST00000688922.2:c.132dup ENSP00000508742.2:p.Val45ArgfsTer7
ENST00000700021.1:c.132dup ENSP00000514757.1:p.Val45ArgfsTer7
ENST00000700022.1:c.132dup ENSP00000514758.1:p.Val45ArgfsTer7
ENST00000706954.1:c.132dup ENSP00000516674.1:p.Val45ArgfsTer7
ENST00000706955.1:c.*167dup ENSP00000516675.1:n.*167dup
ENST00000686459.1:c.132dup ENSP00000508909.1:p.Val45ArgfsTer7
ENST00000688158.1:c.*275+13639dup ENSP00000509254.1:n.*275+13639dup
ENST00000688308.1:c.132dup ENSP00000508752.1:p.Val45ArgfsTer7
ENST00000688922.1:c.1dup
ENST00000693560.1:c.651dup ENSP00000509861.1:p.Val218ArgfsTer7
ENST00000371953.8:c.132dup MANE Select ENSP00000361021.3:p.Val45ArgfsTer7
ENST00000371953.7:c.132dup ENSP00000361021.3:p.Val45ArgfsTer7
ENST00000462694.1:n.134dup
ENST00000610634.1:c.30dup ENSP00000477517.1:p.Val11ArgfsTer7
NM_000314.5:c.132dup NP_000305.3:p.Val45ArgfsTer7
NM_000314.6:c.132dup NP_000305.3:p.Val45ArgfsTer7
NM_001304717.2:c.651dup NP_001291646.2:p.Val218ArgfsTer7
NM_001304718.1:c.-574dup NP_001291647.1:n.-574dup
XM_006717926.2:c.132dup XP_006717989.1:p.Val45ArgfsTer7
XM_011539981.1:c.132dup XP_011538283.1:p.Val45ArgfsTer7
XM_011539982.1:c.68+13639dup XP_011538284.1:n.68+13639dup
XR_945789.1:n.844dup
XR_945790.1:n.844dup
XR_945791.1:n.844dup
NM_000314.7:c.132dup NP_000305.3:p.Val45ArgfsTer7
NM_001304717.5:c.651dup NP_001291646.4:p.Val218ArgfsTer7
NM_001304718.2:c.-574dup NP_001291647.1:n.-574dup
NM_000314.8:c.132dup MANE Select NP_000305.3:p.Val45ArgfsTer7