Canonical Allele Identifier: CA2580082198

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2023565
• ClinVar RCV Id: RCV002858044

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925545dup , CM000672.2:g.87925545dup	GRCh38
NC_000010.10:g.89685302dup , CM000672.1:g.89685302dup	GRCh37
NC_000010.9:g.89675282dup	NCBI36
NG_007466.2:g.67107dup , LRG_311:g.67107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.197dup	ENSP00000514759.2:p.Ile67AspfsTer7
ENST00000710265.1:c.197dup	ENSP00000518161.1:p.Ile67AspfsTer7
ENST00000472832.3:c.197dup	ENSP00000483066.2:p.Ile67AspfsTer7
ENST00000688158.2:n.932dup
ENST00000688922.2:c.197dup	ENSP00000508742.2:p.Ile67AspfsTer15
ENST00000700021.1:c.165-5501dup	ENSP00000514757.1:n.165-5501dup
ENST00000700022.1:c.197dup	ENSP00000514758.1:p.Ile67AspfsTer7
ENST00000700029.1:c.31dup
ENST00000706954.1:c.197dup	ENSP00000516674.1:p.Ile67AspfsTer7
ENST00000706955.1:c.*232dup	ENSP00000516675.1:n.*232dup
ENST00000686459.1:c.197dup	ENSP00000508909.1:p.Ile67AspfsTer7
ENST00000688158.1:c.*308dup	ENSP00000509254.1:n.*308dup
ENST00000688308.1:c.197dup	ENSP00000508752.1:p.Ile67AspfsTer7
ENST00000688922.1:c.66dup
ENST00000693560.1:c.716dup	ENSP00000509861.1:p.Ile240AspfsTer7
ENST00000371953.8:c.197dup MANE Select	ENSP00000361021.3:p.Ile67AspfsTer7
ENST00000371953.7:c.197dup	ENSP00000361021.3:p.Ile67AspfsTer7
ENST00000498703.1:n.23dup
ENST00000610634.1:c.95dup	ENSP00000477517.1:p.Ile33AspfsTer7
NM_000314.5:c.197dup	NP_000305.3:p.Ile67AspfsTer7
NM_000314.6:c.197dup	NP_000305.3:p.Ile67AspfsTer7
NM_001304717.2:c.716dup	NP_001291646.2:p.Ile240AspfsTer7
NM_001304718.1:c.-541-5501dup	NP_001291647.1:n.-541-5501dup
XM_006717926.2:c.165-5501dup	XP_006717989.1:n.165-5501dup
XM_011539981.1:c.197dup	XP_011538283.1:p.Ile67AspfsTer7
XM_011539982.1:c.101dup	XP_011538284.1:p.Ile35AspfsTer7
XR_945789.1:n.909dup
XR_945790.1:n.909dup
XR_945791.1:n.909dup
NM_000314.7:c.197dup	NP_000305.3:p.Ile67AspfsTer7
NM_001304717.5:c.716dup	NP_001291646.4:p.Ile240AspfsTer7
NM_001304718.2:c.-541-5501dup	NP_001291647.1:n.-541-5501dup
NM_000314.8:c.197dup MANE Select	NP_000305.3:p.Ile67AspfsTer7