Canonical Allele Identifier: CA2695203383

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957877dup , CM000672.2:g.87957877dup	GRCh38
NC_000010.10:g.89717634dup , CM000672.1:g.89717634dup	GRCh37
NC_000010.9:g.89707614dup	NCBI36
NG_007466.2:g.99439dup , LRG_311:g.99439dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.659dup	ENSP00000514759.2:p.Val222GlyfsTer21
ENST00000710265.1:c.659dup	ENSP00000518161.1:p.Val222GlyfsTer21
ENST00000472832.3:c.659dup	ENSP00000483066.2:p.Val222GlyfsTer21
ENST00000688158.2:n.1394dup
ENST00000688922.2:c.*489dup	ENSP00000508742.2:n.*489dup
ENST00000700021.1:c.614dup	ENSP00000514757.1:p.Val207GlyfsTer21
ENST00000700022.1:c.517dup	ENSP00000514758.1:p.Ter173LeuextTer?
ENST00000700023.1:n.1817dup
ENST00000700024.1:n.2051dup
ENST00000700025.1:n.1428dup
ENST00000700026.1:n.296dup
ENST00000700029.1:c.493dup
ENST00000706954.1:c.659dup	ENSP00000516674.1:p.Val222GlyfsTer21
ENST00000706955.1:c.*694dup	ENSP00000516675.1:n.*694dup
ENST00000686459.1:c.*245dup	ENSP00000508909.1:n.*245dup
ENST00000688158.1:c.*770dup	ENSP00000509254.1:n.*770dup
ENST00000688308.1:c.659dup	ENSP00000508752.1:p.Val222GlyfsTer21
ENST00000688922.1:c.580dup
ENST00000693560.1:c.1178dup	ENSP00000509861.1:p.Val395GlyfsTer21
ENST00000371953.8:c.659dup MANE Select	ENSP00000361021.3:p.Val222GlyfsTer21
ENST00000371953.7:c.659dup	ENSP00000361021.3:p.Val222GlyfsTer21
ENST00000472832.2:c.86dup	ENSP00000483066.1:p.Val31GlyfsTer21
NM_000314.5:c.659dup	NP_000305.3:p.Val222GlyfsTer21
NM_000314.6:c.659dup	NP_000305.3:p.Val222GlyfsTer21
NM_001304717.2:c.1178dup	NP_001291646.2:p.Val395GlyfsTer21
NM_001304718.1:c.68dup	NP_001291647.1:p.Val25GlyfsTer21
XM_006717926.2:c.614dup	XP_006717989.1:p.Val207GlyfsTer21
XM_011539981.1:c.659dup	XP_011538283.1:p.Val222GlyfsTer21
XM_011539982.1:c.563dup	XP_011538284.1:p.Val190GlyfsTer21
XR_945791.1:n.1229dup
NM_000314.7:c.659dup	NP_000305.3:p.Val222GlyfsTer21
NM_001304717.5:c.1178dup	NP_001291646.4:p.Val395GlyfsTer21
NM_001304718.2:c.68dup	NP_001291647.1:p.Val25GlyfsTer21
NM_000314.8:c.659dup MANE Select	NP_000305.3:p.Val222GlyfsTer21