Canonical Allele Identifier: CA645554083
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM249830

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960925dup , CM000672.2:g.87960925dup GRCh38
NC_000010.10:g.89720682dup , CM000672.1:g.89720682dup GRCh37
NC_000010.9:g.89710662dup NCBI36
NG_007466.2:g.102487dup , LRG_311:g.102487dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.926dup ENSP00000514759.2:p.Phe310LeufsTer19
ENST00000710265.1:c.833dup ENSP00000518161.1:p.Phe279LeufsTer19
ENST00000472832.3:c.833dup ENSP00000483066.2:p.Phe279LeufsTer19
ENST00000688158.2:n.1568dup
ENST00000688922.2:c.*663dup ENSP00000508742.2:n.*663dup
ENST00000700021.1:c.788dup ENSP00000514757.1:p.Phe264LeufsTer19
ENST00000700022.1:c.*172dup ENSP00000514758.1:n.*172dup
ENST00000700023.1:n.1991dup
ENST00000700024.1:n.2225dup
ENST00000700025.1:n.1602dup
ENST00000700026.1:n.470dup
ENST00000700029.1:c.760dup
ENST00000706954.1:c.833dup ENSP00000516674.1:p.Phe279LeufsTer19
ENST00000706955.1:c.*868dup ENSP00000516675.1:n.*868dup
ENST00000686459.1:c.*419dup ENSP00000508909.1:n.*419dup
ENST00000688158.1:c.*944dup ENSP00000509254.1:n.*944dup
ENST00000688308.1:c.833dup ENSP00000508752.1:p.Phe279LeufsTer19
ENST00000688922.1:c.754dup
ENST00000693560.1:c.1352dup ENSP00000509861.1:p.Phe452LeufsTer19
ENST00000371953.8:c.833dup MANE Select ENSP00000361021.3:p.Phe279LeufsTer19
ENST00000371953.7:c.833dup ENSP00000361021.3:p.Phe279LeufsTer19
ENST00000472832.2:c.260dup ENSP00000483066.1:p.Phe88LeufsTer19
NM_000314.5:c.833dup NP_000305.3:p.Phe279LeufsTer19
NM_000314.6:c.833dup NP_000305.3:p.Phe279LeufsTer19
NM_001304717.2:c.1352dup NP_001291646.2:p.Phe452LeufsTer19
NM_001304718.1:c.242dup NP_001291647.1:p.Phe82LeufsTer19
XM_006717926.2:c.788dup XP_006717989.1:p.Phe264LeufsTer19
XM_011539981.1:c.833dup XP_011538283.1:p.Phe279LeufsTer19
XM_011539982.1:c.737dup XP_011538284.1:p.Phe247LeufsTer19
XR_945791.1:n.1403dup
NM_000314.7:c.833dup NP_000305.3:p.Phe279LeufsTer19
NM_001304717.5:c.1352dup NP_001291646.4:p.Phe452LeufsTer19
NM_001304718.2:c.242dup NP_001291647.1:p.Phe82LeufsTer19
NM_000314.8:c.833dup MANE Select NP_000305.3:p.Phe279LeufsTer19