Canonical Allele Identifier: CA2697558547

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2774178
• ClinVar RCV Id: RCV003585766 ; RCV004011538

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925542_87925543insT , CM000672.2:g.87925542_87925543insT	GRCh38
NC_000010.10:g.89685299_89685300insT , CM000672.1:g.89685299_89685300insT	GRCh37
NC_000010.9:g.89675279_89675280insT	NCBI36
NG_007466.2:g.67104_67105insT , LRG_311:g.67104_67105insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.194_195insT	ENSP00000514759.2:p.Lys66GlnfsTer8
ENST00000710265.1:c.194_195insT	ENSP00000518161.1:p.Lys66GlnfsTer8
ENST00000472832.3:c.194_195insT	ENSP00000483066.2:p.Lys66GlnfsTer8
ENST00000688158.2:n.929_930insT
ENST00000688922.2:c.194_195insT	ENSP00000508742.2:p.Lys66GlnfsTer16
ENST00000700021.1:c.165-5504_165-5503insT	ENSP00000514757.1:n.165-5504_165-5503insT
ENST00000700022.1:c.194_195insT	ENSP00000514758.1:p.Lys66GlnfsTer8
ENST00000700029.1:c.28_29insT
ENST00000706954.1:c.194_195insT	ENSP00000516674.1:p.Lys66GlnfsTer8
ENST00000706955.1:c.*229_*230insT	ENSP00000516675.1:n.*229_*230insT
ENST00000686459.1:c.194_195insT	ENSP00000508909.1:p.Lys66GlnfsTer8
ENST00000688158.1:c.*305_*306insT	ENSP00000509254.1:n.*305_*306insT
ENST00000688308.1:c.194_195insT	ENSP00000508752.1:p.Lys66GlnfsTer8
ENST00000688922.1:c.63_64insT
ENST00000693560.1:c.713_714insT	ENSP00000509861.1:p.Lys239GlnfsTer8
ENST00000371953.8:c.194_195insT MANE Select	ENSP00000361021.3:p.Lys66GlnfsTer8
ENST00000371953.7:c.194_195insT	ENSP00000361021.3:p.Lys66GlnfsTer8
ENST00000498703.1:n.20_21insT
ENST00000610634.1:c.92_93insT	ENSP00000477517.1:p.Lys32GlnfsTer8
NM_000314.5:c.194_195insT	NP_000305.3:p.Lys66GlnfsTer8
NM_000314.6:c.194_195insT	NP_000305.3:p.Lys66GlnfsTer8
NM_001304717.2:c.713_714insT	NP_001291646.2:p.Lys239GlnfsTer8
NM_001304718.1:c.-541-5504_-541-5503insT	NP_001291647.1:n.-541-5504_-541-5503insT
XM_006717926.2:c.165-5504_165-5503insT	XP_006717989.1:n.165-5504_165-5503insT
XM_011539981.1:c.194_195insT	XP_011538283.1:p.Lys66GlnfsTer8
XM_011539982.1:c.98_99insT	XP_011538284.1:p.Lys34GlnfsTer8
XR_945789.1:n.906_907insT
XR_945790.1:n.906_907insT
XR_945791.1:n.906_907insT
NM_000314.7:c.194_195insT	NP_000305.3:p.Lys66GlnfsTer8
NM_001304717.5:c.713_714insT	NP_001291646.4:p.Lys239GlnfsTer8
NM_001304718.2:c.-541-5504_-541-5503insT	NP_001291647.1:n.-541-5504_-541-5503insT
NM_000314.8:c.194_195insT MANE Select	NP_000305.3:p.Lys66GlnfsTer8