Canonical Allele Identifier: CA658797485

Gene: PTEN

Linked Data

• ClinVar Variation Id: 536553
• ClinVar RCV Id: RCV000645060
• dbSNP Id: rs1554825209
• MyVariant Identifiers: chr10:g.89717698_89717699dup (hg19) ; chr10:g.87957941_87957942dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957941_87957942dup , CM000672.2:g.87957941_87957942dup	GRCh38
NC_000010.10:g.89717698_89717699dup , CM000672.1:g.89717698_89717699dup	GRCh37
NC_000010.9:g.89707678_89707679dup	NCBI36
NG_007466.2:g.99503_99504dup , LRG_311:g.99503_99504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.723_724dup	ENSP00000514759.2:p.Glu242ValfsTer15
ENST00000710265.1:c.723_724dup	ENSP00000518161.1:p.Glu242ValfsTer15
ENST00000472832.3:c.723_724dup	ENSP00000483066.2:p.Glu242ValfsTer15
ENST00000688158.2:n.1458_1459dup
ENST00000688922.2:c.*553_*554dup	ENSP00000508742.2:n.*553_*554dup
ENST00000700021.1:c.678_679dup	ENSP00000514757.1:p.Glu227ValfsTer15
ENST00000700022.1:c.*62_*63dup	ENSP00000514758.1:n.*62_*63dup
ENST00000700023.1:n.1881_1882dup
ENST00000700024.1:n.2115_2116dup
ENST00000700025.1:n.1492_1493dup
ENST00000700026.1:n.360_361dup
ENST00000700029.1:c.557_558dup
ENST00000706954.1:c.723_724dup	ENSP00000516674.1:p.Glu242ValfsTer15
ENST00000706955.1:c.*758_*759dup	ENSP00000516675.1:n.*758_*759dup
ENST00000686459.1:c.*309_*310dup	ENSP00000508909.1:n.*309_*310dup
ENST00000688158.1:c.*834_*835dup	ENSP00000509254.1:n.*834_*835dup
ENST00000688308.1:c.723_724dup	ENSP00000508752.1:p.Glu242ValfsTer15
ENST00000688922.1:c.644_645dup
ENST00000693560.1:c.1242_1243dup	ENSP00000509861.1:p.Glu415ValfsTer15
ENST00000371953.8:c.723_724dup MANE Select	ENSP00000361021.3:p.Glu242ValfsTer15
ENST00000371953.7:c.723_724dup	ENSP00000361021.3:p.Glu242ValfsTer15
ENST00000472832.2:c.150_151dup	ENSP00000483066.1:p.Glu51ValfsTer15
NM_000314.5:c.723_724dup	NP_000305.3:p.Glu242ValfsTer15
NM_000314.6:c.723_724dup	NP_000305.3:p.Glu242ValfsTer15
NM_001304717.2:c.1242_1243dup	NP_001291646.2:p.Glu415ValfsTer15
NM_001304718.1:c.132_133dup	NP_001291647.1:p.Glu45ValfsTer15
XM_006717926.2:c.678_679dup	XP_006717989.1:p.Glu227ValfsTer15
XM_011539981.1:c.723_724dup	XP_011538283.1:p.Glu242ValfsTer15
XM_011539982.1:c.627_628dup	XP_011538284.1:p.Glu210ValfsTer15
XR_945791.1:n.1293_1294dup
NM_000314.7:c.723_724dup	NP_000305.3:p.Glu242ValfsTer15
NM_001304717.5:c.1242_1243dup	NP_001291646.4:p.Glu415ValfsTer15
NM_001304718.2:c.132_133dup	NP_001291647.1:p.Glu45ValfsTer15
NM_000314.8:c.723_724dup MANE Select	NP_000305.3:p.Glu242ValfsTer15