Canonical Allele Identifier: CA645554055
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM5007

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957974dup , CM000672.2:g.87957974dup GRCh38
NC_000010.10:g.89717731dup , CM000672.1:g.89717731dup GRCh37
NC_000010.9:g.89707711dup NCBI36
NG_007466.2:g.99536dup , LRG_311:g.99536dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.756dup ENSP00000514759.2:p.Ile253TyrfsTer?
ENST00000710265.1:c.756dup ENSP00000518161.1:p.Ile253TyrfsTer?
ENST00000472832.3:c.756dup ENSP00000483066.2:p.Ile253TyrfsTer?
ENST00000688158.2:n.1491dup
ENST00000688922.2:c.*586dup ENSP00000508742.2:n.*586dup
ENST00000700021.1:c.711dup ENSP00000514757.1:p.Ile238TyrfsTer?
ENST00000700022.1:c.*95dup ENSP00000514758.1:n.*95dup
ENST00000700023.1:n.1914dup
ENST00000700024.1:n.2148dup
ENST00000700025.1:n.1525dup
ENST00000700026.1:n.393dup
ENST00000700029.1:c.590dup
ENST00000706954.1:c.756dup ENSP00000516674.1:p.Ile253TyrfsTer?
ENST00000706955.1:c.*791dup ENSP00000516675.1:n.*791dup
ENST00000686459.1:c.*342dup ENSP00000508909.1:n.*342dup
ENST00000688158.1:c.*867dup ENSP00000509254.1:n.*867dup
ENST00000688308.1:c.756dup ENSP00000508752.1:p.Ile253TyrfsTer?
ENST00000688922.1:c.677dup
ENST00000693560.1:c.1275dup ENSP00000509861.1:p.Ile426TyrfsTer?
ENST00000371953.8:c.756dup MANE Select ENSP00000361021.3:p.Ile253TyrfsTer?
ENST00000371953.7:c.756dup ENSP00000361021.3:p.Ile253TyrfsTer?
ENST00000472832.2:c.183dup ENSP00000483066.1:p.Ile62TyrfsTer?
NM_000314.5:c.756dup NP_000305.3:p.Ile253TyrfsTer?
NM_000314.6:c.756dup NP_000305.3:p.Ile253TyrfsTer?
NM_001304717.2:c.1275dup NP_001291646.2:p.Ile426TyrfsTer?
NM_001304718.1:c.165dup NP_001291647.1:p.Ile56TyrfsTer?
XM_006717926.2:c.711dup XP_006717989.1:p.Ile238TyrfsTer?
XM_011539981.1:c.756dup XP_011538283.1:p.Ile253TyrfsTer?
XM_011539982.1:c.660dup XP_011538284.1:p.Ile221TyrfsTer?
XR_945791.1:n.1326dup
NM_000314.7:c.756dup NP_000305.3:p.Ile253TyrfsTer?
NM_001304717.5:c.1275dup NP_001291646.4:p.Ile426TyrfsTer?
NM_001304718.2:c.165dup NP_001291647.1:p.Ile56TyrfsTer?
NM_000314.8:c.756dup MANE Select NP_000305.3:p.Ile253TyrfsTer?