Canonical Allele Identifier: CA645553837

Gene: PTEN

Linked Data

• ClinVar Variation Id: 492731
• ClinVar RCV Id: RCV000583904
• dbSNP Id: rs1554898152
• COSMIC: COSM921091
• MyVariant Identifiers: chr10:g.89692918_89692920del (hg19) ; chr10:g.87933161_87933163del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933161_87933163del , CM000672.2:g.87933161_87933163del	GRCh38
NC_000010.10:g.89692918_89692920del , CM000672.1:g.89692918_89692920del	GRCh37
NC_000010.9:g.89682898_89682900del	NCBI36
NG_007466.2:g.74723_74725del , LRG_311:g.74723_74725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.402_404del	ENSP00000514759.2:p.Met134del
ENST00000710265.1:c.402_404del	ENSP00000518161.1:p.Met134del
ENST00000472832.3:c.402_404del	ENSP00000483066.2:p.Met134del
ENST00000688158.2:n.1137_1139del
ENST00000688922.2:c.*232_*234del	ENSP00000508742.2:n.*232_*234del
ENST00000700021.1:c.357_359del	ENSP00000514757.1:p.Met119del
ENST00000700022.1:c.402_404del	ENSP00000514758.1:p.Met134del
ENST00000700029.1:c.236_238del
ENST00000706954.1:c.402_404del	ENSP00000516674.1:p.Met134del
ENST00000706955.1:c.*437_*439del	ENSP00000516675.1:n.*437_*439del
ENST00000686459.1:c.402_404del	ENSP00000508909.1:p.Met134del
ENST00000688158.1:c.*513_*515del	ENSP00000509254.1:n.*513_*515del
ENST00000688308.1:c.402_404del	ENSP00000508752.1:p.Met134del
ENST00000688922.1:c.323_325del
ENST00000693560.1:c.921_923del	ENSP00000509861.1:p.Met307del
ENST00000371953.8:c.402_404del MANE Select	ENSP00000361021.3:p.Met134del
ENST00000371953.7:c.402_404del	ENSP00000361021.3:p.Met134del
ENST00000498703.1:n.228_230del
ENST00000610634.1:c.300_302del	ENSP00000477517.1:p.Met100del
NM_000314.5:c.402_404del	NP_000305.3:p.Met134del
NM_000314.6:c.402_404del	NP_000305.3:p.Met134del
NM_001304717.2:c.921_923del	NP_001291646.2:p.Met307del
NM_001304718.1:c.-349_-347del	NP_001291647.1:n.-349_-347del
XM_006717926.2:c.357_359del	XP_006717989.1:p.Met119del
XM_011539981.1:c.402_404del	XP_011538283.1:p.Met134del
XM_011539982.1:c.306_308del	XP_011538284.1:p.Met102del
XR_945789.1:n.1114_1116del
XR_945790.1:n.1114_1116del
XR_945791.1:n.1114_1116del
NM_000314.7:c.402_404del	NP_000305.3:p.Met134del
NM_001304717.5:c.921_923del	NP_001291646.4:p.Met307del
NM_001304718.2:c.-349_-347del	NP_001291647.1:n.-349_-347del
NM_000314.8:c.402_404del MANE Select	NP_000305.3:p.Met134del