Canonical Allele Identifier: CA470669967
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957986dup , CM000672.2:g.87957986dup GRCh38
NC_000010.10:g.89717743dup , CM000672.1:g.89717743dup GRCh37
NC_000010.9:g.89707723dup NCBI36
NG_007466.2:g.99548dup , LRG_311:g.99548dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.768dup ENSP00000514759.2:p.Phe257ValfsTer?
ENST00000710265.1:c.768dup ENSP00000518161.1:p.Phe257ValfsTer?
ENST00000472832.3:c.768dup ENSP00000483066.2:p.Phe257ValfsTer?
ENST00000688158.2:n.1503dup
ENST00000688922.2:c.*598dup ENSP00000508742.2:n.*598dup
ENST00000700021.1:c.723dup ENSP00000514757.1:p.Phe242ValfsTer?
ENST00000700022.1:c.*107dup ENSP00000514758.1:n.*107dup
ENST00000700023.1:n.1926dup
ENST00000700024.1:n.2160dup
ENST00000700025.1:n.1537dup
ENST00000700026.1:n.405dup
ENST00000700029.1:c.602dup
ENST00000706954.1:c.768dup ENSP00000516674.1:p.Phe257ValfsTer?
ENST00000706955.1:c.*803dup ENSP00000516675.1:n.*803dup
ENST00000686459.1:c.*354dup ENSP00000508909.1:n.*354dup
ENST00000688158.1:c.*879dup ENSP00000509254.1:n.*879dup
ENST00000688308.1:c.768dup ENSP00000508752.1:p.Phe257ValfsTer?
ENST00000688922.1:c.689dup
ENST00000693560.1:c.1287dup ENSP00000509861.1:p.Phe430ValfsTer?
ENST00000371953.8:c.768dup MANE Select ENSP00000361021.3:p.Phe257ValfsTer?
ENST00000371953.7:c.768dup ENSP00000361021.3:p.Phe257ValfsTer?
ENST00000472832.2:c.195dup ENSP00000483066.1:p.Phe66ValfsTer?
NM_000314.5:c.768dup NP_000305.3:p.Phe257ValfsTer?
NM_000314.6:c.768dup NP_000305.3:p.Phe257ValfsTer?
NM_001304717.2:c.1287dup NP_001291646.2:p.Phe430ValfsTer?
NM_001304718.1:c.177dup NP_001291647.1:p.Phe60ValfsTer?
XM_006717926.2:c.723dup XP_006717989.1:p.Phe242ValfsTer?
XM_011539981.1:c.768dup XP_011538283.1:p.Phe257ValfsTer?
XM_011539982.1:c.672dup XP_011538284.1:p.Phe225ValfsTer?
XR_945791.1:n.1338dup
NM_000314.7:c.768dup NP_000305.3:p.Phe257ValfsTer?
NM_001304717.5:c.1287dup NP_001291646.4:p.Phe430ValfsTer?
NM_001304718.2:c.177dup NP_001291647.1:p.Phe60ValfsTer?
NM_000314.8:c.768dup MANE Select NP_000305.3:p.Phe257ValfsTer?