Canonical Allele Identifier: CA645554102
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961014dup , CM000672.2:g.87961014dup GRCh38
NC_000010.10:g.89720771dup , CM000672.1:g.89720771dup GRCh37
NC_000010.9:g.89710751dup NCBI36
NG_007466.2:g.102576dup , LRG_311:g.102576dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1015dup ENSP00000514759.2:p.Arg339ProfsTer4
ENST00000710265.1:c.922dup ENSP00000518161.1:p.Arg308ProfsTer4
ENST00000472832.3:c.922dup ENSP00000483066.2:p.Arg308ProfsTer4
ENST00000688158.2:n.1657dup
ENST00000688922.2:c.*752dup ENSP00000508742.2:n.*752dup
ENST00000700021.1:c.877dup ENSP00000514757.1:p.Arg293ProfsTer4
ENST00000700022.1:c.*261dup ENSP00000514758.1:n.*261dup
ENST00000700023.1:n.2080dup
ENST00000700024.1:n.2314dup
ENST00000700025.1:n.1691dup
ENST00000700026.1:n.559dup
ENST00000706954.1:c.922dup ENSP00000516674.1:p.Arg308ProfsTer4
ENST00000706955.1:c.*957dup ENSP00000516675.1:n.*957dup
ENST00000686459.1:c.*508dup ENSP00000508909.1:n.*508dup
ENST00000688158.1:c.*1033dup ENSP00000509254.1:n.*1033dup
ENST00000688308.1:c.922dup ENSP00000508752.1:p.Arg308ProfsTer4
ENST00000688922.1:c.843dup
ENST00000693560.1:c.1441dup ENSP00000509861.1:p.Arg481ProfsTer4
ENST00000371953.8:c.922dup MANE Select ENSP00000361021.3:p.Arg308ProfsTer4
ENST00000371953.7:c.922dup ENSP00000361021.3:p.Arg308ProfsTer4
ENST00000472832.2:c.349dup ENSP00000483066.1:p.Arg117ProfsTer4
NM_000314.5:c.922dup NP_000305.3:p.Arg308ProfsTer4
NM_000314.6:c.922dup NP_000305.3:p.Arg308ProfsTer4
NM_001304717.2:c.1441dup NP_001291646.2:p.Arg481ProfsTer4
NM_001304718.1:c.331dup NP_001291647.1:p.Arg111ProfsTer4
XM_006717926.2:c.877dup XP_006717989.1:p.Arg293ProfsTer4
XM_011539981.1:c.922dup XP_011538283.1:p.Arg308ProfsTer4
XM_011539982.1:c.826dup XP_011538284.1:p.Arg276ProfsTer4
XR_945791.1:n.1492dup
NM_000314.7:c.922dup NP_000305.3:p.Arg308ProfsTer4
NM_001304717.5:c.1441dup NP_001291646.4:p.Arg481ProfsTer4
NM_001304718.2:c.331dup NP_001291647.1:p.Arg111ProfsTer4
NM_000314.8:c.922dup MANE Select NP_000305.3:p.Arg308ProfsTer4