Canonical Allele Identifier: CA1139768289
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958006dup , CM000672.2:g.87958006dup GRCh38
NC_000010.10:g.89717763dup , CM000672.1:g.89717763dup GRCh37
NC_000010.9:g.89707743dup NCBI36
NG_007466.2:g.99568dup , LRG_311:g.99568dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.788dup ENSP00000514759.2:p.Met264AspfsTer?
ENST00000710265.1:c.788dup ENSP00000518161.1:p.Met264AspfsTer?
ENST00000472832.3:c.788dup ENSP00000483066.2:p.Met264AspfsTer?
ENST00000688158.2:n.1523dup
ENST00000688922.2:c.*618dup ENSP00000508742.2:n.*618dup
ENST00000700021.1:c.743dup ENSP00000514757.1:p.Met249AspfsTer?
ENST00000700022.1:c.*127dup ENSP00000514758.1:n.*127dup
ENST00000700023.1:n.1946dup
ENST00000700024.1:n.2180dup
ENST00000700025.1:n.1557dup
ENST00000700026.1:n.425dup
ENST00000700029.1:c.622dup
ENST00000706954.1:c.788dup ENSP00000516674.1:p.Met264AspfsTer?
ENST00000706955.1:c.*823dup ENSP00000516675.1:n.*823dup
ENST00000686459.1:c.*374dup ENSP00000508909.1:n.*374dup
ENST00000688158.1:c.*899dup ENSP00000509254.1:n.*899dup
ENST00000688308.1:c.788dup ENSP00000508752.1:p.Met264AspfsTer?
ENST00000688922.1:c.709dup
ENST00000693560.1:c.1307dup ENSP00000509861.1:p.Met437AspfsTer?
ENST00000371953.8:c.788dup MANE Select ENSP00000361021.3:p.Met264AspfsTer?
ENST00000371953.7:c.788dup ENSP00000361021.3:p.Met264AspfsTer?
ENST00000472832.2:c.215dup ENSP00000483066.1:p.Met73AspfsTer?
NM_000314.5:c.788dup NP_000305.3:p.Met264AspfsTer?
NM_000314.6:c.788dup NP_000305.3:p.Met264AspfsTer?
NM_001304717.2:c.1307dup NP_001291646.2:p.Met437AspfsTer?
NM_001304718.1:c.197dup NP_001291647.1:p.Met67AspfsTer?
XM_006717926.2:c.743dup XP_006717989.1:p.Met249AspfsTer?
XM_011539981.1:c.788dup XP_011538283.1:p.Met264AspfsTer?
XM_011539982.1:c.692dup XP_011538284.1:p.Met232AspfsTer?
XR_945791.1:n.1358dup
NM_000314.7:c.788dup NP_000305.3:p.Met264AspfsTer?
NM_001304717.5:c.1307dup NP_001291646.4:p.Met437AspfsTer?
NM_001304718.2:c.197dup NP_001291647.1:p.Met67AspfsTer?
NM_000314.8:c.788dup MANE Select NP_000305.3:p.Met264AspfsTer?