Canonical Allele Identifier: CA645553914

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2017417
• ClinVar RCV Id: RCV002835195
• COSMIC: COSM5967123

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952225del , CM000672.2:g.87952225del	GRCh38
NC_000010.10:g.89711982del , CM000672.1:g.89711982del	GRCh37
NC_000010.9:g.89701962del	NCBI36
NG_007466.2:g.93787del , LRG_311:g.93787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.600del	ENSP00000514759.2:p.Phe200LeufsTer21
ENST00000710265.1:c.600del	ENSP00000518161.1:p.Phe200LeufsTer21
ENST00000472832.3:c.600del	ENSP00000483066.2:p.Phe200LeufsTer21
ENST00000688158.2:n.1335del
ENST00000688922.2:c.*430del	ENSP00000508742.2:n.*430del
ENST00000700021.1:c.555del	ENSP00000514757.1:p.Phe185LeufsTer21
ENST00000700022.1:c.493-5628del	ENSP00000514758.1:n.493-5628del
ENST00000700023.1:n.1758del
ENST00000700024.1:n.1992del
ENST00000700025.1:n.1369del
ENST00000700029.1:c.434del
ENST00000706954.1:c.600del	ENSP00000516674.1:p.Phe200LeufsTer21
ENST00000706955.1:c.*635del	ENSP00000516675.1:n.*635del
ENST00000686459.1:c.*186del	ENSP00000508909.1:n.*186del
ENST00000688158.1:c.*711del	ENSP00000509254.1:n.*711del
ENST00000688308.1:c.600del	ENSP00000508752.1:p.Phe200LeufsTer21
ENST00000688922.1:c.521del
ENST00000693560.1:c.1119del	ENSP00000509861.1:p.Phe373LeufsTer21
ENST00000371953.8:c.600del MANE Select	ENSP00000361021.3:p.Phe200LeufsTer21
ENST00000371953.7:c.600del	ENSP00000361021.3:p.Phe200LeufsTer21
ENST00000472832.2:c.27del	ENSP00000483066.1:p.Phe9LeufsTer21
NM_000314.5:c.600del	NP_000305.3:p.Phe200LeufsTer21
NM_000314.6:c.600del	NP_000305.3:p.Phe200LeufsTer21
NM_001304717.2:c.1119del	NP_001291646.2:p.Phe373LeufsTer21
NM_001304718.1:c.9del	NP_001291647.1:p.Phe3LeufsTer21
XM_006717926.2:c.555del	XP_006717989.1:p.Phe185LeufsTer21
XM_011539981.1:c.600del	XP_011538283.1:p.Phe200LeufsTer21
XM_011539982.1:c.504del	XP_011538284.1:p.Phe168LeufsTer21
XR_945791.1:n.1205-5628del
NM_000314.7:c.600del	NP_000305.3:p.Phe200LeufsTer21
NM_001304717.5:c.1119del	NP_001291646.4:p.Phe373LeufsTer21
NM_001304718.2:c.9del	NP_001291647.1:p.Phe3LeufsTer21
NM_000314.8:c.600del MANE Select	NP_000305.3:p.Phe200LeufsTer21