Canonical Allele Identifier: CA2580615562

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2562405
• ClinVar RCV Id: RCV003310465

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965363del , CM000672.2:g.87965363del	GRCh38
NC_000010.10:g.89725120del , CM000672.1:g.89725120del	GRCh37
NC_000010.9:g.89715100del	NCBI36
NG_007466.2:g.106925del , LRG_311:g.106925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1196del	ENSP00000514759.2:p.Asp399ValfsTer?
ENST00000710265.1:c.*132del	ENSP00000518161.1:n.*132del
ENST00000688158.2:n.1838del
ENST00000688922.2:c.*933del	ENSP00000508742.2:n.*933del
ENST00000700021.1:c.1058del	ENSP00000514757.1:p.Asp353ValfsTer?
ENST00000700022.1:c.*442del	ENSP00000514758.1:n.*442del
ENST00000700023.1:n.2261del
ENST00000700024.1:n.2495del
ENST00000706954.1:c.1103del	ENSP00000516674.1:p.Asp368ValfsTer?
ENST00000706955.1:c.*1138del	ENSP00000516675.1:n.*1138del
ENST00000686459.1:c.*689del	ENSP00000508909.1:n.*689del
ENST00000688158.1:c.*1214del	ENSP00000509254.1:n.*1214del
ENST00000688308.1:c.1103del	ENSP00000508752.1:p.Asp368ValfsTer?
ENST00000688922.1:c.1024del
ENST00000693560.1:c.1622del	ENSP00000509861.1:p.Asp541ValfsTer?
ENST00000371953.8:c.1103del MANE Select	ENSP00000361021.3:p.Asp368ValfsTer?
ENST00000371953.7:c.1103del	ENSP00000361021.3:p.Asp368ValfsTer?
NM_000314.5:c.1103del	NP_000305.3:p.Asp368ValfsTer?
NM_000314.6:c.1103del	NP_000305.3:p.Asp368ValfsTer?
NM_001304717.2:c.1622del	NP_001291646.2:p.Asp541ValfsTer?
NM_001304718.1:c.512del	NP_001291647.1:p.Asp171ValfsTer?
XM_006717926.2:c.1058del	XP_006717989.1:p.Asp353ValfsTer?
XM_011539982.1:c.1007del	XP_011538284.1:p.Asp336ValfsTer?
XR_945791.1:n.1673del
NM_000314.7:c.1103del	NP_000305.3:p.Asp368ValfsTer?
NM_001304717.5:c.1622del	NP_001291646.4:p.Asp541ValfsTer?
NM_001304718.2:c.512del	NP_001291647.1:p.Asp171ValfsTer?
NM_000314.8:c.1103del MANE Select	NP_000305.3:p.Asp368ValfsTer?