Canonical Allele Identifier: CA2824998336
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933162_87933168dup , CM000672.2:g.87933162_87933168dup GRCh38
NC_000010.10:g.89692919_89692925dup , CM000672.1:g.89692919_89692925dup GRCh37
NC_000010.9:g.89682899_89682905dup NCBI36
NG_007466.2:g.74724_74730dup , LRG_311:g.74724_74730dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.403_409dup ENSP00000514759.2:p.Ala137AspfsTer?
ENST00000710265.1:c.403_409dup ENSP00000518161.1:p.Ala137AspfsTer?
ENST00000472832.3:c.403_409dup ENSP00000483066.2:p.Ala137AspfsTer?
ENST00000688158.2:n.1138_1144dup
ENST00000688922.2:c.*233_*239dup ENSP00000508742.2:n.*233_*239dup
ENST00000700021.1:c.358_364dup ENSP00000514757.1:p.Ala122AspfsTer?
ENST00000700022.1:c.403_409dup ENSP00000514758.1:p.Ala137AspfsTer?
ENST00000700029.1:c.237_243dup
ENST00000706954.1:c.403_409dup ENSP00000516674.1:p.Ala137AspfsTer?
ENST00000706955.1:c.*438_*444dup ENSP00000516675.1:n.*438_*444dup
ENST00000686459.1:c.403_409dup ENSP00000508909.1:p.Ala137AspfsTer?
ENST00000688158.1:c.*514_*520dup ENSP00000509254.1:n.*514_*520dup
ENST00000688308.1:c.403_409dup ENSP00000508752.1:p.Ala137AspfsTer?
ENST00000688922.1:c.324_330dup
ENST00000693560.1:c.922_928dup ENSP00000509861.1:p.Ala310AspfsTer?
ENST00000371953.8:c.403_409dup MANE Select ENSP00000361021.3:p.Ala137AspfsTer?
ENST00000371953.7:c.403_409dup ENSP00000361021.3:p.Ala137AspfsTer?
ENST00000498703.1:n.229_235dup
ENST00000610634.1:c.301_307dup ENSP00000477517.1:p.Ala103AspfsTer?
NM_000314.5:c.403_409dup NP_000305.3:p.Ala137AspfsTer?
NM_000314.6:c.403_409dup NP_000305.3:p.Ala137AspfsTer?
NM_001304717.2:c.922_928dup NP_001291646.2:p.Ala310AspfsTer?
NM_001304718.1:c.-348_-342dup NP_001291647.1:n.-348_-342dup
XM_006717926.2:c.358_364dup XP_006717989.1:p.Ala122AspfsTer?
XM_011539981.1:c.403_409dup XP_011538283.1:p.Ala137AspfsTer?
XM_011539982.1:c.307_313dup XP_011538284.1:p.Ala105AspfsTer?
XR_945789.1:n.1115_1121dup
XR_945790.1:n.1115_1121dup
XR_945791.1:n.1115_1121dup
NM_000314.7:c.403_409dup NP_000305.3:p.Ala137AspfsTer?
NM_001304717.5:c.922_928dup NP_001291646.4:p.Ala310AspfsTer?
NM_001304718.2:c.-348_-342dup NP_001291647.1:n.-348_-342dup
NM_000314.8:c.403_409dup MANE Select NP_000305.3:p.Ala137AspfsTer?