Canonical Allele Identifier: CA2695203441
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960977dup , CM000672.2:g.87960977dup GRCh38
NC_000010.10:g.89720734dup , CM000672.1:g.89720734dup GRCh37
NC_000010.9:g.89710714dup NCBI36
NG_007466.2:g.102539dup , LRG_311:g.102539dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.978dup ENSP00000514759.2:p.Cys327MetfsTer2
ENST00000710265.1:c.885dup ENSP00000518161.1:p.Cys296MetfsTer2
ENST00000472832.3:c.885dup ENSP00000483066.2:p.Cys296MetfsTer2
ENST00000688158.2:n.1620dup
ENST00000688922.2:c.*715dup ENSP00000508742.2:n.*715dup
ENST00000700021.1:c.840dup ENSP00000514757.1:p.Cys281MetfsTer2
ENST00000700022.1:c.*224dup ENSP00000514758.1:n.*224dup
ENST00000700023.1:n.2043dup
ENST00000700024.1:n.2277dup
ENST00000700025.1:n.1654dup
ENST00000700026.1:n.522dup
ENST00000706954.1:c.885dup ENSP00000516674.1:p.Cys296MetfsTer2
ENST00000706955.1:c.*920dup ENSP00000516675.1:n.*920dup
ENST00000686459.1:c.*471dup ENSP00000508909.1:n.*471dup
ENST00000688158.1:c.*996dup ENSP00000509254.1:n.*996dup
ENST00000688308.1:c.885dup ENSP00000508752.1:p.Cys296MetfsTer2
ENST00000688922.1:c.806dup
ENST00000693560.1:c.1404dup ENSP00000509861.1:p.Cys469MetfsTer2
ENST00000371953.8:c.885dup MANE Select ENSP00000361021.3:p.Cys296MetfsTer2
ENST00000371953.7:c.885dup ENSP00000361021.3:p.Cys296MetfsTer2
ENST00000472832.2:c.312dup ENSP00000483066.1:p.Cys105MetfsTer2
NM_000314.5:c.885dup NP_000305.3:p.Cys296MetfsTer2
NM_000314.6:c.885dup NP_000305.3:p.Cys296MetfsTer2
NM_001304717.2:c.1404dup NP_001291646.2:p.Cys469MetfsTer2
NM_001304718.1:c.294dup NP_001291647.1:p.Cys99MetfsTer2
XM_006717926.2:c.840dup XP_006717989.1:p.Cys281MetfsTer2
XM_011539981.1:c.885dup XP_011538283.1:p.Cys296MetfsTer2
XM_011539982.1:c.789dup XP_011538284.1:p.Cys264MetfsTer2
XR_945791.1:n.1455dup
NM_000314.7:c.885dup NP_000305.3:p.Cys296MetfsTer2
NM_001304717.5:c.1404dup NP_001291646.4:p.Cys469MetfsTer2
NM_001304718.2:c.294dup NP_001291647.1:p.Cys99MetfsTer2
NM_000314.8:c.885dup MANE Select NP_000305.3:p.Cys296MetfsTer2