Canonical Allele Identifier: CA16619062

Gene: PTEN

Linked Data

• ClinVar Variation Id: 419505
• ClinVar RCV Id: RCV000480589 ; RCV001038349 ; RCV003449194
• dbSNP Id: rs786204905
• COSMIC: COSM5866
• MyVariant Identifiers: chr10:g.89720724del (hg19) ; chr10:g.87960967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960967del , CM000672.2:g.87960967del	GRCh38
NC_000010.10:g.89720724del , CM000672.1:g.89720724del	GRCh37
NC_000010.9:g.89710704del	NCBI36
NG_007466.2:g.102529del , LRG_311:g.102529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.968del	ENSP00000514759.2:p.Asn323MetfsTer15
ENST00000710265.1:c.875del	ENSP00000518161.1:p.Asn292MetfsTer15
ENST00000472832.3:c.875del	ENSP00000483066.2:p.Asn292MetfsTer15
ENST00000688158.2:n.1610del
ENST00000688922.2:c.*705del	ENSP00000508742.2:n.*705del
ENST00000700021.1:c.830del	ENSP00000514757.1:p.Asn277MetfsTer15
ENST00000700022.1:c.*214del	ENSP00000514758.1:n.*214del
ENST00000700023.1:n.2033del
ENST00000700024.1:n.2267del
ENST00000700025.1:n.1644del
ENST00000700026.1:n.512del
ENST00000700029.1:c.802del
ENST00000706954.1:c.875del	ENSP00000516674.1:p.Asn292MetfsTer15
ENST00000706955.1:c.*910del	ENSP00000516675.1:n.*910del
ENST00000686459.1:c.*461del	ENSP00000508909.1:n.*461del
ENST00000688158.1:c.*986del	ENSP00000509254.1:n.*986del
ENST00000688308.1:c.875del	ENSP00000508752.1:p.Asn292MetfsTer15
ENST00000688922.1:c.796del
ENST00000693560.1:c.1394del	ENSP00000509861.1:p.Asn465MetfsTer15
ENST00000371953.8:c.875del MANE Select	ENSP00000361021.3:p.Asn292MetfsTer15
ENST00000371953.7:c.875del	ENSP00000361021.3:p.Asn292MetfsTer15
ENST00000472832.2:c.302del	ENSP00000483066.1:p.Asn101MetfsTer15
NM_000314.5:c.875del	NP_000305.3:p.Asn292MetfsTer15
NM_000314.6:c.875del	NP_000305.3:p.Asn292MetfsTer15
NM_001304717.2:c.1394del	NP_001291646.2:p.Asn465MetfsTer15
NM_001304718.1:c.284del	NP_001291647.1:p.Asn95MetfsTer15
XM_006717926.2:c.830del	XP_006717989.1:p.Asn277MetfsTer15
XM_011539981.1:c.875del	XP_011538283.1:p.Asn292MetfsTer15
XM_011539982.1:c.779del	XP_011538284.1:p.Asn260MetfsTer15
XR_945791.1:n.1445del
NM_000314.7:c.875del	NP_000305.3:p.Asn292MetfsTer15
NM_001304717.5:c.1394del	NP_001291646.4:p.Asn465MetfsTer15
NM_001304718.2:c.284del	NP_001291647.1:p.Asn95MetfsTer15
NM_000314.8:c.875del MANE Select	NP_000305.3:p.Asn292MetfsTer15