Canonical Allele Identifier: CA645293879
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 427594
dbSNP Id: rs1085308052

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952145dup , CM000672.2:g.87952145dup GRCh38
NC_000010.10:g.89711902dup , CM000672.1:g.89711902dup GRCh37
NC_000010.9:g.89701882dup NCBI36
NG_007466.2:g.93707dup , LRG_311:g.93707dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.520dup ENSP00000514759.2:p.Tyr174LeufsTer6
ENST00000710265.1:c.520dup ENSP00000518161.1:p.Tyr174LeufsTer6
ENST00000472832.3:c.520dup ENSP00000483066.2:p.Tyr174LeufsTer6
ENST00000688158.2:n.1255dup
ENST00000688922.2:c.*350dup ENSP00000508742.2:n.*350dup
ENST00000700021.1:c.475dup ENSP00000514757.1:p.Tyr159LeufsTer6
ENST00000700022.1:c.493-5708dup ENSP00000514758.1:n.493-5708dup
ENST00000700023.1:n.1678dup
ENST00000700024.1:n.1912dup
ENST00000700025.1:n.1289dup
ENST00000700029.1:c.354dup
ENST00000706954.1:c.520dup ENSP00000516674.1:p.Tyr174LeufsTer6
ENST00000706955.1:c.*555dup ENSP00000516675.1:n.*555dup
ENST00000686459.1:c.*106dup ENSP00000508909.1:n.*106dup
ENST00000688158.1:c.*631dup ENSP00000509254.1:n.*631dup
ENST00000688308.1:c.520dup ENSP00000508752.1:p.Tyr174LeufsTer6
ENST00000688922.1:c.441dup
ENST00000693560.1:c.1039dup ENSP00000509861.1:p.Tyr347LeufsTer6
ENST00000371953.8:c.520dup MANE Select ENSP00000361021.3:p.Tyr174LeufsTer6
ENST00000371953.7:c.520dup ENSP00000361021.3:p.Tyr174LeufsTer6
NM_000314.5:c.520dup NP_000305.3:p.Tyr174LeufsTer6
NM_000314.6:c.520dup NP_000305.3:p.Tyr174LeufsTer6
NM_001304717.2:c.1039dup NP_001291646.2:p.Tyr347LeufsTer6
NM_001304718.1:c.-72dup NP_001291647.1:n.-72dup
XM_006717926.2:c.475dup XP_006717989.1:p.Tyr159LeufsTer6
XM_011539981.1:c.520dup XP_011538283.1:p.Tyr174LeufsTer6
XM_011539982.1:c.424dup XP_011538284.1:p.Tyr142LeufsTer6
XR_945789.1:n.1391dup
XR_945790.1:n.1508dup
XR_945791.1:n.1205-5708dup
NM_000314.7:c.520dup NP_000305.3:p.Tyr174LeufsTer6
NM_001304717.5:c.1039dup NP_001291646.4:p.Tyr347LeufsTer6
NM_001304718.2:c.-72dup NP_001291647.1:n.-72dup
NM_000314.8:c.520dup MANE Select NP_000305.3:p.Tyr174LeufsTer6