Canonical Allele Identifier: CA913189221

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965360dup , CM000672.2:g.87965360dup	GRCh38
NC_000010.10:g.89725117dup , CM000672.1:g.89725117dup	GRCh37
NC_000010.9:g.89715097dup	NCBI36
NG_007466.2:g.106922dup , LRG_311:g.106922dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1193dup	ENSP00000514759.2:p.Asp399ArgfsTer3
ENST00000710265.1:c.*129dup	ENSP00000518161.1:n.*129dup
ENST00000688158.2:n.1835dup
ENST00000688922.2:c.*930dup	ENSP00000508742.2:n.*930dup
ENST00000700021.1:c.1055dup	ENSP00000514757.1:p.Asp353ArgfsTer3
ENST00000700022.1:c.*439dup	ENSP00000514758.1:n.*439dup
ENST00000700023.1:n.2258dup
ENST00000700024.1:n.2492dup
ENST00000706954.1:c.1100dup	ENSP00000516674.1:p.Asp368ArgfsTer3
ENST00000706955.1:c.*1135dup	ENSP00000516675.1:n.*1135dup
ENST00000686459.1:c.*686dup	ENSP00000508909.1:n.*686dup
ENST00000688158.1:c.*1211dup	ENSP00000509254.1:n.*1211dup
ENST00000688308.1:c.1100dup	ENSP00000508752.1:p.Asp368ArgfsTer3
ENST00000688922.1:c.1021dup
ENST00000693560.1:c.1619dup	ENSP00000509861.1:p.Asp541ArgfsTer3
ENST00000371953.8:c.1100dup MANE Select	ENSP00000361021.3:p.Asp368ArgfsTer3
ENST00000371953.7:c.1100dup	ENSP00000361021.3:p.Asp368ArgfsTer3
NM_000314.5:c.1100dup	NP_000305.3:p.Asp368ArgfsTer3
NM_000314.6:c.1100dup	NP_000305.3:p.Asp368ArgfsTer3
NM_001304717.2:c.1619dup	NP_001291646.2:p.Asp541ArgfsTer3
NM_001304718.1:c.509dup	NP_001291647.1:p.Asp171ArgfsTer3
XM_006717926.2:c.1055dup	XP_006717989.1:p.Asp353ArgfsTer3
XM_011539982.1:c.1004dup	XP_011538284.1:p.Asp336ArgfsTer3
XR_945791.1:n.1670dup
NM_000314.7:c.1100dup	NP_000305.3:p.Asp368ArgfsTer3
NM_001304717.5:c.1619dup	NP_001291646.4:p.Asp541ArgfsTer3
NM_001304718.2:c.509dup	NP_001291647.1:p.Asp171ArgfsTer3
NM_000314.8:c.1100dup MANE Select	NP_000305.3:p.Asp368ArgfsTer3