Canonical Allele Identifier: CA000490

Gene: PTEN

Linked Data

• ClinVar Variation Id: 7843
• ClinVar RCV Id: RCV000008292 ; RCV000656709 ; RCV000790892
• dbSNP Id: rs587776673
• MyVariant Identifiers: chr10:g.89711889del (hg19) ; chr10:g.87952132del (hg38)
• ERepo: CA000490/MONDO:0017623/003
• PubMed: PMID:12471211 ; PMID:14518070

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952132del , CM000672.2:g.87952132del	GRCh38
NC_000010.10:g.89711889del , CM000672.1:g.89711889del	GRCh37
NC_000010.9:g.89701869del	NCBI36
NG_007466.2:g.93694del , LRG_311:g.93694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.507del	ENSP00000514759.2:p.Ser170ValfsTer13
ENST00000710265.1:c.507del	ENSP00000518161.1:p.Ser170ValfsTer13
ENST00000472832.3:c.507del	ENSP00000483066.2:p.Ser170ValfsTer13
ENST00000688158.2:n.1242del
ENST00000688922.2:c.*337del	ENSP00000508742.2:n.*337del
ENST00000700021.1:c.462del	ENSP00000514757.1:p.Ser155ValfsTer13
ENST00000700022.1:c.493-5721del	ENSP00000514758.1:n.493-5721del
ENST00000700023.1:n.1665del
ENST00000700024.1:n.1899del
ENST00000700025.1:n.1276del
ENST00000700029.1:c.341del
ENST00000706954.1:c.507del	ENSP00000516674.1:p.Ser170ValfsTer13
ENST00000706955.1:c.*542del	ENSP00000516675.1:n.*542del
ENST00000686459.1:c.*93del	ENSP00000508909.1:n.*93del
ENST00000688158.1:c.*618del	ENSP00000509254.1:n.*618del
ENST00000688308.1:c.507del	ENSP00000508752.1:p.Ser170ValfsTer13
ENST00000688922.1:c.428del
ENST00000693560.1:c.1026del	ENSP00000509861.1:p.Ser343ValfsTer13
ENST00000371953.8:c.507del MANE Select	ENSP00000361021.3:p.Ser170ValfsTer13
ENST00000371953.7:c.507del	ENSP00000361021.3:p.Ser170ValfsTer13
NM_000314.5:c.507del	NP_000305.3:p.Ser170ValfsTer13
NM_000314.6:c.507del	NP_000305.3:p.Ser170ValfsTer13
NM_001304717.2:c.1026del	NP_001291646.2:p.Ser343ValfsTer13
NM_001304718.1:c.-85del	NP_001291647.1:n.-85del
XM_006717926.2:c.462del	XP_006717989.1:p.Ser155ValfsTer13
XM_011539981.1:c.507del	XP_011538283.1:p.Ser170ValfsTer13
XM_011539982.1:c.411del	XP_011538284.1:p.Ser138ValfsTer13
XR_945789.1:n.1378del
XR_945790.1:n.1495del
XR_945791.1:n.1205-5721del
NM_000314.7:c.507del	NP_000305.3:p.Ser170ValfsTer13
NM_001304717.5:c.1026del	NP_001291646.4:p.Ser343ValfsTer13
NM_001304718.2:c.-85del	NP_001291647.1:n.-85del
NM_000314.8:c.507del MANE Select	NP_000305.3:p.Ser170ValfsTer13