Canonical Allele Identifier: CA2580082258

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2090001
• ClinVar RCV Id: RCV003020690

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933097_87933150del , CM000672.2:g.87933097_87933150del	GRCh38
NC_000010.10:g.89692854_89692907del , CM000672.1:g.89692854_89692907del	GRCh37
NC_000010.9:g.89682834_89682887del	NCBI36
NG_007466.2:g.74659_74712del , LRG_311:g.74659_74712del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.338_391del	ENSP00000514759.2:p.Ser113_Arg130del
ENST00000710265.1:c.338_391del	ENSP00000518161.1:p.Ser113_Arg130del
ENST00000472832.3:c.338_391del	ENSP00000483066.2:p.Ser113_Arg130del
ENST00000688158.2:n.1073_1126del
ENST00000688922.2:c.*168_*221del	ENSP00000508742.2:n.*168_*221del
ENST00000700021.1:c.293_346del	ENSP00000514757.1:p.Ser98_Arg115del
ENST00000700022.1:c.338_391del	ENSP00000514758.1:p.Ser113_Arg130del
ENST00000700029.1:c.172_225del
ENST00000706954.1:c.338_391del	ENSP00000516674.1:p.Ser113_Arg130del
ENST00000706955.1:c.*373_*426del	ENSP00000516675.1:n.*373_*426del
ENST00000686459.1:c.338_391del	ENSP00000508909.1:p.Ser113_Arg130del
ENST00000688158.1:c.*449_*502del	ENSP00000509254.1:n.*449_*502del
ENST00000688308.1:c.338_391del	ENSP00000508752.1:p.Ser113_Arg130del
ENST00000688922.1:c.259_312del
ENST00000693560.1:c.857_910del	ENSP00000509861.1:p.Ser286_Arg303del
ENST00000371953.8:c.338_391del MANE Select	ENSP00000361021.3:p.Ser113_Arg130del
ENST00000371953.7:c.338_391del	ENSP00000361021.3:p.Ser113_Arg130del
ENST00000498703.1:n.164_217del
ENST00000610634.1:c.236_289del	ENSP00000477517.1:p.Ser79_Arg96del
NM_000314.5:c.338_391del	NP_000305.3:p.Ser113_Arg130del
NM_000314.6:c.338_391del	NP_000305.3:p.Ser113_Arg130del
NM_001304717.2:c.857_910del	NP_001291646.2:p.Ser286_Arg303del
NM_001304718.1:c.-413_-360del	NP_001291647.1:n.-413_-360del
XM_006717926.2:c.293_346del	XP_006717989.1:p.Ser98_Arg115del
XM_011539981.1:c.338_391del	XP_011538283.1:p.Ser113_Arg130del
XM_011539982.1:c.242_295del	XP_011538284.1:p.Ser81_Arg98del
XR_945789.1:n.1050_1103del
XR_945790.1:n.1050_1103del
XR_945791.1:n.1050_1103del
NM_000314.7:c.338_391del	NP_000305.3:p.Ser113_Arg130del
NM_001304717.5:c.857_910del	NP_001291646.4:p.Ser286_Arg303del
NM_001304718.2:c.-413_-360del	NP_001291647.1:n.-413_-360del
NM_000314.8:c.338_391del MANE Select	NP_000305.3:p.Ser113_Arg130del