Canonical Allele Identifier: CA2697558589

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2687584
• ClinVar RCV Id: RCV003484333

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933162dup , CM000672.2:g.87933162dup	GRCh38
NC_000010.10:g.89692919dup , CM000672.1:g.89692919dup	GRCh37
NC_000010.9:g.89682899dup	NCBI36
NG_007466.2:g.74724dup , LRG_311:g.74724dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.403dup	ENSP00000514759.2:p.Ile135AsnfsTer?
ENST00000710265.1:c.403dup	ENSP00000518161.1:p.Ile135AsnfsTer?
ENST00000472832.3:c.403dup	ENSP00000483066.2:p.Ile135AsnfsTer?
ENST00000688158.2:n.1138dup
ENST00000688922.2:c.*233dup	ENSP00000508742.2:n.*233dup
ENST00000700021.1:c.358dup	ENSP00000514757.1:p.Ile120AsnfsTer?
ENST00000700022.1:c.403dup	ENSP00000514758.1:p.Ile135AsnfsTer?
ENST00000700029.1:c.237dup
ENST00000706954.1:c.403dup	ENSP00000516674.1:p.Ile135AsnfsTer?
ENST00000706955.1:c.*438dup	ENSP00000516675.1:n.*438dup
ENST00000686459.1:c.403dup	ENSP00000508909.1:p.Ile135AsnfsTer?
ENST00000688158.1:c.*514dup	ENSP00000509254.1:n.*514dup
ENST00000688308.1:c.403dup	ENSP00000508752.1:p.Ile135AsnfsTer?
ENST00000688922.1:c.324dup
ENST00000693560.1:c.922dup	ENSP00000509861.1:p.Ile308AsnfsTer?
ENST00000371953.8:c.403dup MANE Select	ENSP00000361021.3:p.Ile135AsnfsTer?
ENST00000371953.7:c.403dup	ENSP00000361021.3:p.Ile135AsnfsTer?
ENST00000498703.1:n.229dup
ENST00000610634.1:c.301dup	ENSP00000477517.1:p.Ile101AsnfsTer?
NM_000314.5:c.403dup	NP_000305.3:p.Ile135AsnfsTer?
NM_000314.6:c.403dup	NP_000305.3:p.Ile135AsnfsTer?
NM_001304717.2:c.922dup	NP_001291646.2:p.Ile308AsnfsTer?
NM_001304718.1:c.-348dup	NP_001291647.1:n.-348dup
XM_006717926.2:c.358dup	XP_006717989.1:p.Ile120AsnfsTer?
XM_011539981.1:c.403dup	XP_011538283.1:p.Ile135AsnfsTer?
XM_011539982.1:c.307dup	XP_011538284.1:p.Ile103AsnfsTer?
XR_945789.1:n.1115dup
XR_945790.1:n.1115dup
XR_945791.1:n.1115dup
NM_000314.7:c.403dup	NP_000305.3:p.Ile135AsnfsTer?
NM_001304717.5:c.922dup	NP_001291646.4:p.Ile308AsnfsTer?
NM_001304718.2:c.-348dup	NP_001291647.1:n.-348dup
NM_000314.8:c.403dup MANE Select	NP_000305.3:p.Ile135AsnfsTer?