Canonical Allele Identifier: CA2697558635

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2708689
• ClinVar RCV Id: RCV003510716

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965383del , CM000672.2:g.87965383del	GRCh38
NC_000010.10:g.89725140del , CM000672.1:g.89725140del	GRCh37
NC_000010.9:g.89715120del	NCBI36
NG_007466.2:g.106945del , LRG_311:g.106945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1216del	ENSP00000514759.2:p.Asp406IlefsTer?
ENST00000710265.1:c.*152del	ENSP00000518161.1:n.*152del
ENST00000688158.2:n.1858del
ENST00000688922.2:c.*953del	ENSP00000508742.2:n.*953del
ENST00000700021.1:c.1078del	ENSP00000514757.1:p.Asp360IlefsTer?
ENST00000700022.1:c.*462del	ENSP00000514758.1:n.*462del
ENST00000700023.1:n.2281del
ENST00000700024.1:n.2515del
ENST00000706954.1:c.1123del	ENSP00000516674.1:p.Asp375IlefsTer?
ENST00000706955.1:c.*1158del	ENSP00000516675.1:n.*1158del
ENST00000686459.1:c.*709del	ENSP00000508909.1:n.*709del
ENST00000688158.1:c.*1234del	ENSP00000509254.1:n.*1234del
ENST00000688308.1:c.1123del	ENSP00000508752.1:p.Asp375IlefsTer?
ENST00000688922.1:c.1044del
ENST00000693560.1:c.1642del	ENSP00000509861.1:p.Asp548IlefsTer?
ENST00000371953.8:c.1123del MANE Select	ENSP00000361021.3:p.Asp375IlefsTer?
ENST00000371953.7:c.1123del	ENSP00000361021.3:p.Asp375IlefsTer?
NM_000314.5:c.1123del	NP_000305.3:p.Asp375IlefsTer?
NM_000314.6:c.1123del	NP_000305.3:p.Asp375IlefsTer?
NM_001304717.2:c.1642del	NP_001291646.2:p.Asp548IlefsTer?
NM_001304718.1:c.532del	NP_001291647.1:p.Asp178IlefsTer?
XM_006717926.2:c.1078del	XP_006717989.1:p.Asp360IlefsTer?
XM_011539982.1:c.1027del	XP_011538284.1:p.Asp343IlefsTer?
XR_945791.1:n.1693del
NM_000314.7:c.1123del	NP_000305.3:p.Asp375IlefsTer?
NM_001304717.5:c.1642del	NP_001291646.4:p.Asp548IlefsTer?
NM_001304718.2:c.532del	NP_001291647.1:p.Asp178IlefsTer?
NM_000314.8:c.1123del MANE Select	NP_000305.3:p.Asp375IlefsTer?