Canonical Allele Identifier: CA470973921
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960928dup , CM000672.2:g.87960928dup GRCh38
NC_000010.10:g.89720685dup , CM000672.1:g.89720685dup GRCh37
NC_000010.9:g.89710665dup NCBI36
NG_007466.2:g.102490dup , LRG_311:g.102490dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.929dup ENSP00000514759.2:p.Ile311HisfsTer18
ENST00000710265.1:c.836dup ENSP00000518161.1:p.Ile280HisfsTer18
ENST00000472832.3:c.836dup ENSP00000483066.2:p.Ile280HisfsTer18
ENST00000688158.2:n.1571dup
ENST00000688922.2:c.*666dup ENSP00000508742.2:n.*666dup
ENST00000700021.1:c.791dup ENSP00000514757.1:p.Ile265HisfsTer18
ENST00000700022.1:c.*175dup ENSP00000514758.1:n.*175dup
ENST00000700023.1:n.1994dup
ENST00000700024.1:n.2228dup
ENST00000700025.1:n.1605dup
ENST00000700026.1:n.473dup
ENST00000700029.1:c.763dup
ENST00000706954.1:c.836dup ENSP00000516674.1:p.Ile280HisfsTer18
ENST00000706955.1:c.*871dup ENSP00000516675.1:n.*871dup
ENST00000686459.1:c.*422dup ENSP00000508909.1:n.*422dup
ENST00000688158.1:c.*947dup ENSP00000509254.1:n.*947dup
ENST00000688308.1:c.836dup ENSP00000508752.1:p.Ile280HisfsTer18
ENST00000688922.1:c.757dup
ENST00000693560.1:c.1355dup ENSP00000509861.1:p.Ile453HisfsTer18
ENST00000371953.8:c.836dup MANE Select ENSP00000361021.3:p.Ile280HisfsTer18
ENST00000371953.7:c.836dup ENSP00000361021.3:p.Ile280HisfsTer18
ENST00000472832.2:c.263dup ENSP00000483066.1:p.Ile89HisfsTer18
NM_000314.5:c.836dup NP_000305.3:p.Ile280HisfsTer18
NM_000314.6:c.836dup NP_000305.3:p.Ile280HisfsTer18
NM_001304717.2:c.1355dup NP_001291646.2:p.Ile453HisfsTer18
NM_001304718.1:c.245dup NP_001291647.1:p.Ile83HisfsTer18
XM_006717926.2:c.791dup XP_006717989.1:p.Ile265HisfsTer18
XM_011539981.1:c.836dup XP_011538283.1:p.Ile280HisfsTer18
XM_011539982.1:c.740dup XP_011538284.1:p.Ile248HisfsTer18
XR_945791.1:n.1406dup
NM_000314.7:c.836dup NP_000305.3:p.Ile280HisfsTer18
NM_001304717.5:c.1355dup NP_001291646.4:p.Ile453HisfsTer18
NM_001304718.2:c.245dup NP_001291647.1:p.Ile83HisfsTer18
NM_000314.8:c.836dup MANE Select NP_000305.3:p.Ile280HisfsTer18