Canonical Allele Identifier: CA2573334575
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894076del , CM000672.2:g.87894076del GRCh38
NC_000010.10:g.89653833del , CM000672.1:g.89653833del GRCh37
NC_000010.9:g.89643813del NCBI36
NG_007466.2:g.35638del , LRG_311:g.35638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.131del ENSP00000514759.2:p.Gly44AlafsTer10
ENST00000710265.1:c.131del ENSP00000518161.1:p.Gly44AlafsTer10
ENST00000472832.3:c.131del ENSP00000483066.2:p.Gly44AlafsTer10
ENST00000688158.2:n.899+13638del
ENST00000688922.2:c.131del ENSP00000508742.2:p.Gly44AlafsTer10
ENST00000700021.1:c.131del ENSP00000514757.1:p.Gly44AlafsTer10
ENST00000700022.1:c.131del ENSP00000514758.1:p.Gly44AlafsTer10
ENST00000706954.1:c.131del ENSP00000516674.1:p.Gly44AlafsTer10
ENST00000706955.1:c.*166del ENSP00000516675.1:n.*166del
ENST00000686459.1:c.131del ENSP00000508909.1:p.Gly44AlafsTer10
ENST00000688158.1:c.*275+13638del ENSP00000509254.1:n.*275+13638del
ENST00000688308.1:c.131del ENSP00000508752.1:p.Gly44AlafsTer10
ENST00000693560.1:c.650del ENSP00000509861.1:p.Gly217AlafsTer10
ENST00000371953.8:c.131del MANE Select ENSP00000361021.3:p.Gly44AlafsTer10
ENST00000371953.7:c.131del ENSP00000361021.3:p.Gly44AlafsTer10
ENST00000462694.1:n.133del
ENST00000610634.1:c.29del ENSP00000477517.1:p.Gly10AlafsTer10
NM_000314.5:c.131del NP_000305.3:p.Gly44AlafsTer10
NM_000314.6:c.131del NP_000305.3:p.Gly44AlafsTer10
NM_001304717.2:c.650del NP_001291646.2:p.Gly217AlafsTer10
NM_001304718.1:c.-575del NP_001291647.1:n.-575del
XM_006717926.2:c.131del XP_006717989.1:p.Gly44AlafsTer10
XM_011539981.1:c.131del XP_011538283.1:p.Gly44AlafsTer10
XM_011539982.1:c.68+13638del XP_011538284.1:n.68+13638del
XR_945789.1:n.843del
XR_945790.1:n.843del
XR_945791.1:n.843del
NM_000314.7:c.131del NP_000305.3:p.Gly44AlafsTer10
NM_001304717.5:c.650del NP_001291646.4:p.Gly217AlafsTer10
NM_001304718.2:c.-575del NP_001291647.1:n.-575del
NM_000314.8:c.131del MANE Select NP_000305.3:p.Gly44AlafsTer10