Canonical Allele Identifier: CA645553874

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2687540
• ClinVar RCV Id: RCV003484289
• COSMIC: COSM5945

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933258del , CM000672.2:g.87933258del	GRCh38
NC_000010.10:g.89693015del , CM000672.1:g.89693015del	GRCh37
NC_000010.9:g.89682995del	NCBI36
NG_007466.2:g.74820del , LRG_311:g.74820del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.492+7del	ENSP00000514759.2:n.492+7del
ENST00000710265.1:c.492+7del	ENSP00000518161.1:n.492+7del
ENST00000472832.3:c.492+7del	ENSP00000483066.2:n.492+7del
ENST00000688158.2:n.1227+7del
ENST00000688922.2:c.*322+7del	ENSP00000508742.2:n.*322+7del
ENST00000700021.1:c.447+7del	ENSP00000514757.1:n.447+7del
ENST00000700022.1:c.492+7del	ENSP00000514758.1:n.492+7del
ENST00000700029.1:c.326+7del
ENST00000706954.1:c.492+7del	ENSP00000516674.1:n.492+7del
ENST00000706955.1:c.*527+7del	ENSP00000516675.1:n.*527+7del
ENST00000686459.1:c.492+7del	ENSP00000508909.1:n.492+7del
ENST00000688158.1:c.*603+7del	ENSP00000509254.1:n.*603+7del
ENST00000688308.1:c.492+7del	ENSP00000508752.1:n.492+7del
ENST00000688922.1:c.413+7del
ENST00000693560.1:c.1011+7del	ENSP00000509861.1:n.1011+7del
ENST00000371953.8:c.492+7del MANE Select	ENSP00000361021.3:n.492+7del
ENST00000371953.7:c.492+7del	ENSP00000361021.3:n.492+7del
ENST00000498703.1:n.325del
ENST00000610634.1:c.390+7del	ENSP00000477517.1:n.390+7del
NM_000314.5:c.492+7del	NP_000305.3:n.492+7del
NM_000314.6:c.492+7del	NP_000305.3:n.492+7del
NM_001304717.2:c.1011+7del	NP_001291646.2:n.1011+7del
NM_001304718.1:c.-259+7del	NP_001291647.1:n.-259+7del
XM_006717926.2:c.447+7del	XP_006717989.1:n.447+7del
XM_011539981.1:c.492+7del	XP_011538283.1:n.492+7del
XM_011539982.1:c.396+7del	XP_011538284.1:n.396+7del
XR_945789.1:n.1204+7del
XR_945790.1:n.1204+7del
XR_945791.1:n.1204+7del
NM_000314.7:c.492+7del	NP_000305.3:n.492+7del
NM_001304717.5:c.1011+7del	NP_001291646.4:n.1011+7del
NM_001304718.2:c.-259+7del	NP_001291647.1:n.-259+7del
NM_000314.8:c.492+7del MANE Select	NP_000305.3:n.492+7del