Canonical Allele Identifier: CA2695212430

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933068dup , CM000672.2:g.87933068dup	GRCh38
NC_000010.10:g.89692825dup , CM000672.1:g.89692825dup	GRCh37
NC_000010.9:g.89682805dup	NCBI36
NG_007466.2:g.74630dup , LRG_311:g.74630dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.309dup	ENSP00000514759.2:p.Phe104LeufsTer3
ENST00000710265.1:c.309dup	ENSP00000518161.1:p.Phe104LeufsTer3
ENST00000472832.3:c.309dup	ENSP00000483066.2:p.Phe104LeufsTer3
ENST00000688158.2:n.1044dup
ENST00000688922.2:c.*139dup	ENSP00000508742.2:n.*139dup
ENST00000700021.1:c.264dup	ENSP00000514757.1:p.Phe89LeufsTer3
ENST00000700022.1:c.309dup	ENSP00000514758.1:p.Phe104LeufsTer3
ENST00000700029.1:c.143dup
ENST00000706954.1:c.309dup	ENSP00000516674.1:p.Phe104LeufsTer3
ENST00000706955.1:c.*344dup	ENSP00000516675.1:n.*344dup
ENST00000686459.1:c.309dup	ENSP00000508909.1:p.Phe104LeufsTer3
ENST00000688158.1:c.*420dup	ENSP00000509254.1:n.*420dup
ENST00000688308.1:c.309dup	ENSP00000508752.1:p.Phe104LeufsTer3
ENST00000688922.1:c.230dup
ENST00000693560.1:c.828dup	ENSP00000509861.1:p.Phe277LeufsTer3
ENST00000371953.8:c.309dup MANE Select	ENSP00000361021.3:p.Phe104LeufsTer3
ENST00000371953.7:c.309dup	ENSP00000361021.3:p.Phe104LeufsTer3
ENST00000498703.1:n.135dup
ENST00000610634.1:c.207dup	ENSP00000477517.1:p.Phe70LeufsTer3
NM_000314.5:c.309dup	NP_000305.3:p.Phe104LeufsTer3
NM_000314.6:c.309dup	NP_000305.3:p.Phe104LeufsTer3
NM_001304717.2:c.828dup	NP_001291646.2:p.Phe277LeufsTer3
NM_001304718.1:c.-442dup	NP_001291647.1:n.-442dup
XM_006717926.2:c.264dup	XP_006717989.1:p.Phe89LeufsTer3
XM_011539981.1:c.309dup	XP_011538283.1:p.Phe104LeufsTer3
XM_011539982.1:c.213dup	XP_011538284.1:p.Phe72LeufsTer3
XR_945789.1:n.1021dup
XR_945790.1:n.1021dup
XR_945791.1:n.1021dup
NM_000314.7:c.309dup	NP_000305.3:p.Phe104LeufsTer3
NM_001304717.5:c.828dup	NP_001291646.4:p.Phe277LeufsTer3
NM_001304718.2:c.-442dup	NP_001291647.1:n.-442dup
NM_000314.8:c.309dup MANE Select	NP_000305.3:p.Phe104LeufsTer3