Canonical Allele Identifier: CA645554139
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM5003

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961097dup , CM000672.2:g.87961097dup GRCh38
NC_000010.10:g.89720854dup , CM000672.1:g.89720854dup GRCh37
NC_000010.9:g.89710834dup NCBI36
NG_007466.2:g.102659dup , LRG_311:g.102659dup

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.1098dup ENSP00000514759.2:p.Tyr367IlefsTer7
ENST00000710265.1:c.1005dup ENSP00000518161.1:p.Tyr336IlefsTer7
ENST00000472832.3:c.1005dup ENSP00000483066.2:p.Tyr336IlefsTer7
ENST00000688158.2:n.1740dup
ENST00000688922.2:c.*835dup ENSP00000508742.2:n.*835dup
ENST00000700021.1:c.960dup ENSP00000514757.1:p.Tyr321IlefsTer7
ENST00000700022.1:c.*344dup ENSP00000514758.1:n.*344dup
ENST00000700023.1:n.2163dup
ENST00000700024.1:n.2397dup
ENST00000700025.1:n.1774dup
ENST00000700026.1:n.642dup
ENST00000706954.1:c.1005dup ENSP00000516674.1:p.Tyr336IlefsTer7
ENST00000706955.1:c.*1040dup ENSP00000516675.1:n.*1040dup
ENST00000686459.1:c.*591dup ENSP00000508909.1:n.*591dup
ENST00000688158.1:c.*1116dup ENSP00000509254.1:n.*1116dup
ENST00000688308.1:c.1005dup ENSP00000508752.1:p.Tyr336IlefsTer7
ENST00000688922.1:c.926dup
ENST00000693560.1:c.1524dup ENSP00000509861.1:p.Tyr509IlefsTer7
ENST00000371953.8:c.1005dup MANE Select ENSP00000361021.3:p.Tyr336IlefsTer7
ENST00000371953.7:c.1005dup ENSP00000361021.3:p.Tyr336IlefsTer7
ENST00000472832.2:c.432dup ENSP00000483066.1:p.Tyr145IlefsTer7
NM_000314.5:c.1005dup NP_000305.3:p.Tyr336IlefsTer7
NM_000314.6:c.1005dup NP_000305.3:p.Tyr336IlefsTer7
NM_001304717.2:c.1524dup NP_001291646.2:p.Tyr509IlefsTer7
NM_001304718.1:c.414dup NP_001291647.1:p.Tyr139IlefsTer7
XM_006717926.2:c.960dup XP_006717989.1:p.Tyr321IlefsTer7
XM_011539981.1:c.1005dup XP_011538283.1:p.Tyr336IlefsTer7
XM_011539982.1:c.909dup XP_011538284.1:p.Tyr304IlefsTer7
XR_945791.1:n.1575dup
NM_000314.7:c.1005dup NP_000305.3:p.Tyr336IlefsTer7
NM_001304717.5:c.1524dup NP_001291646.4:p.Tyr509IlefsTer7
NM_001304718.2:c.414dup NP_001291647.1:p.Tyr139IlefsTer7
NM_000314.8:c.1005dup MANE Select NP_000305.3:p.Tyr336IlefsTer7