Canonical Allele Identifier: CA2697558575

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2687569
• ClinVar RCV Id: RCV003484318

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933119_87933120insC , CM000672.2:g.87933119_87933120insC	GRCh38
NC_000010.10:g.89692876_89692877insC , CM000672.1:g.89692876_89692877insC	GRCh37
NC_000010.9:g.89682856_89682857insC	NCBI36
NG_007466.2:g.74681_74682insC , LRG_311:g.74681_74682insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.360_361insC	ENSP00000514759.2:p.Ala121ArgfsTer5
ENST00000710265.1:c.360_361insC	ENSP00000518161.1:p.Ala121ArgfsTer5
ENST00000472832.3:c.360_361insC	ENSP00000483066.2:p.Ala121ArgfsTer5
ENST00000688158.2:n.1095_1096insC
ENST00000688922.2:c.*190_*191insC	ENSP00000508742.2:n.*190_*191insC
ENST00000700021.1:c.315_316insC	ENSP00000514757.1:p.Ala106ArgfsTer5
ENST00000700022.1:c.360_361insC	ENSP00000514758.1:p.Ala121ArgfsTer5
ENST00000700029.1:c.194_195insC
ENST00000706954.1:c.360_361insC	ENSP00000516674.1:p.Ala121ArgfsTer5
ENST00000706955.1:c.*395_*396insC	ENSP00000516675.1:n.*395_*396insC
ENST00000686459.1:c.360_361insC	ENSP00000508909.1:p.Ala121ArgfsTer5
ENST00000688158.1:c.*471_*472insC	ENSP00000509254.1:n.*471_*472insC
ENST00000688308.1:c.360_361insC	ENSP00000508752.1:p.Ala121ArgfsTer5
ENST00000688922.1:c.281_282insC
ENST00000693560.1:c.879_880insC	ENSP00000509861.1:p.Ala294ArgfsTer5
ENST00000371953.8:c.360_361insC MANE Select	ENSP00000361021.3:p.Ala121ArgfsTer5
ENST00000371953.7:c.360_361insC	ENSP00000361021.3:p.Ala121ArgfsTer5
ENST00000498703.1:n.186_187insC
ENST00000610634.1:c.258_259insC	ENSP00000477517.1:p.Ala87ArgfsTer5
NM_000314.5:c.360_361insC	NP_000305.3:p.Ala121ArgfsTer5
NM_000314.6:c.360_361insC	NP_000305.3:p.Ala121ArgfsTer5
NM_001304717.2:c.879_880insC	NP_001291646.2:p.Ala294ArgfsTer5
NM_001304718.1:c.-391_-390insC	NP_001291647.1:n.-391_-390insC
XM_006717926.2:c.315_316insC	XP_006717989.1:p.Ala106ArgfsTer5
XM_011539981.1:c.360_361insC	XP_011538283.1:p.Ala121ArgfsTer5
XM_011539982.1:c.264_265insC	XP_011538284.1:p.Ala89ArgfsTer5
XR_945789.1:n.1072_1073insC
XR_945790.1:n.1072_1073insC
XR_945791.1:n.1072_1073insC
NM_000314.7:c.360_361insC	NP_000305.3:p.Ala121ArgfsTer5
NM_001304717.5:c.879_880insC	NP_001291646.4:p.Ala294ArgfsTer5
NM_001304718.2:c.-391_-390insC	NP_001291647.1:n.-391_-390insC
NM_000314.8:c.360_361insC MANE Select	NP_000305.3:p.Ala121ArgfsTer5