Canonical Allele Identifier: CA645369429

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428275
• ClinVar RCV Id: RCV000491107
• dbSNP Id: rs1114167681

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925514_87925515delinsA , CM000672.2:g.87925514_87925515delinsA	GRCh38
NC_000010.10:g.89685271_89685272delinsA , CM000672.1:g.89685271_89685272delinsA	GRCh37
NC_000010.9:g.89675251_89675252delinsA	NCBI36
NG_007466.2:g.67076_67077delinsA , LRG_311:g.67076_67077delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.166_167delinsA	ENSP00000514759.2:p.Phe56IlefsTer?
ENST00000710265.1:c.166_167delinsA	ENSP00000518161.1:p.Phe56IlefsTer?
ENST00000472832.3:c.166_167delinsA	ENSP00000483066.2:p.Phe56IlefsTer?
ENST00000688158.2:n.901_902delinsA
ENST00000688922.2:c.166_167delinsA	ENSP00000508742.2:p.Phe56IlefsTer21
ENST00000700021.1:c.165-5532_165-5531delinsA	ENSP00000514757.1:n.165-5532_165-5531delinsA
ENST00000700022.1:c.166_167delinsA	ENSP00000514758.1:p.Phe56IlefsTer?
ENST00000706954.1:c.166_167delinsA	ENSP00000516674.1:p.Phe56IlefsTer?
ENST00000706955.1:c.*201_*202delinsA	ENSP00000516675.1:n.*201_*202delinsA
ENST00000686459.1:c.166_167delinsA	ENSP00000508909.1:p.Phe56IlefsTer?
ENST00000688158.1:c.*277_*278delinsA	ENSP00000509254.1:n.*277_*278delinsA
ENST00000688308.1:c.166_167delinsA	ENSP00000508752.1:p.Phe56IlefsTer?
ENST00000688922.1:c.35_36delinsA
ENST00000693560.1:c.685_686delinsA	ENSP00000509861.1:p.Phe229IlefsTer?
ENST00000371953.8:c.166_167delinsA MANE Select	ENSP00000361021.3:p.Phe56IlefsTer?
ENST00000371953.7:c.166_167delinsA	ENSP00000361021.3:p.Phe56IlefsTer?
ENST00000610634.1:c.64_65delinsA	ENSP00000477517.1:p.Phe22IlefsTer?
NM_000314.5:c.166_167delinsA	NP_000305.3:p.Phe56IlefsTer?
NM_000314.6:c.166_167delinsA	NP_000305.3:p.Phe56IlefsTer?
NM_001304717.2:c.685_686delinsA	NP_001291646.2:p.Phe229IlefsTer?
NM_001304718.1:c.-541-5532_-541-5531delinsA	NP_001291647.1:n.-541-5532_-541-5531delinsA
XM_006717926.2:c.165-5532_165-5531delinsA	XP_006717989.1:n.165-5532_165-5531delinsA
XM_011539981.1:c.166_167delinsA	XP_011538283.1:p.Phe56IlefsTer?
XM_011539982.1:c.70_71delinsA	XP_011538284.1:p.Phe24IlefsTer?
XR_945789.1:n.878_879delinsA
XR_945790.1:n.878_879delinsA
XR_945791.1:n.878_879delinsA
NM_000314.7:c.166_167delinsA	NP_000305.3:p.Phe56IlefsTer?
NM_001304717.5:c.685_686delinsA	NP_001291646.4:p.Phe229IlefsTer?
NM_001304718.2:c.-541-5532_-541-5531delinsA	NP_001291647.1:n.-541-5532_-541-5531delinsA
NM_000314.8:c.166_167delinsA MANE Select	NP_000305.3:p.Phe56IlefsTer?