Canonical Allele Identifier: CA645553794

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933028_87933098dup , CM000672.2:g.87933028_87933098dup	GRCh38
NC_000010.10:g.89692785_89692855dup , CM000672.1:g.89692785_89692855dup	GRCh37
NC_000010.9:g.89682765_89682835dup	NCBI36
NG_007466.2:g.74590_74660dup , LRG_311:g.74590_74660dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.269_339dup	ENSP00000514759.2:p.Glu114LeufsTer9
ENST00000710265.1:c.269_339dup	ENSP00000518161.1:p.Glu114LeufsTer9
ENST00000472832.3:c.269_339dup	ENSP00000483066.2:p.Glu114LeufsTer9
ENST00000688158.2:n.1004_1074dup
ENST00000688922.2:c.*99_*169dup	ENSP00000508742.2:n.*99_*169dup
ENST00000700021.1:c.224_294dup	ENSP00000514757.1:p.Glu99LeufsTer9
ENST00000700022.1:c.269_339dup	ENSP00000514758.1:p.Glu114LeufsTer9
ENST00000700029.1:c.103_173dup
ENST00000706954.1:c.269_339dup	ENSP00000516674.1:p.Glu114LeufsTer9
ENST00000706955.1:c.*304_*374dup	ENSP00000516675.1:n.*304_*374dup
ENST00000686459.1:c.269_339dup	ENSP00000508909.1:p.Glu114LeufsTer9
ENST00000688158.1:c.*380_*450dup	ENSP00000509254.1:n.*380_*450dup
ENST00000688308.1:c.269_339dup	ENSP00000508752.1:p.Glu114LeufsTer9
ENST00000688922.1:c.190_260dup
ENST00000693560.1:c.788_858dup	ENSP00000509861.1:p.Glu287LeufsTer9
ENST00000371953.8:c.269_339dup MANE Select	ENSP00000361021.3:p.Glu114LeufsTer9
ENST00000371953.7:c.269_339dup	ENSP00000361021.3:p.Glu114LeufsTer9
ENST00000498703.1:n.95_165dup
ENST00000610634.1:c.167_237dup	ENSP00000477517.1:p.Glu80LeufsTer9
NM_000314.5:c.269_339dup	NP_000305.3:p.Glu114LeufsTer9
NM_000314.6:c.269_339dup	NP_000305.3:p.Glu114LeufsTer9
NM_001304717.2:c.788_858dup	NP_001291646.2:p.Glu287LeufsTer9
NM_001304718.1:c.-482_-412dup	NP_001291647.1:n.-482_-412dup
XM_006717926.2:c.224_294dup	XP_006717989.1:p.Glu99LeufsTer9
XM_011539981.1:c.269_339dup	XP_011538283.1:p.Glu114LeufsTer9
XM_011539982.1:c.173_243dup	XP_011538284.1:p.Glu82LeufsTer9
XR_945789.1:n.981_1051dup
XR_945790.1:n.981_1051dup
XR_945791.1:n.981_1051dup
NM_000314.7:c.269_339dup	NP_000305.3:p.Glu114LeufsTer9
NM_001304717.5:c.788_858dup	NP_001291646.4:p.Glu287LeufsTer9
NM_001304718.2:c.-482_-412dup	NP_001291647.1:n.-482_-412dup
NM_000314.8:c.269_339dup MANE Select	NP_000305.3:p.Glu114LeufsTer9