Canonical Allele Identifier: CA658657983

Gene: PTEN

Linked Data

• ClinVar Variation Id: 484597
• ClinVar RCV Id: RCV000562349 ; RCV001042817
• dbSNP Id: rs1554826049
• MyVariant Identifiers: chr10:g.89725133_89725136del (hg19) ; chr10:g.87965376_87965379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965376_87965379del , CM000672.2:g.87965376_87965379del	GRCh38
NC_000010.10:g.89725133_89725136del , CM000672.1:g.89725133_89725136del	GRCh37
NC_000010.9:g.89715113_89715116del	NCBI36
NG_007466.2:g.106938_106941del , LRG_311:g.106938_106941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1209_1212del	ENSP00000514759.2:p.Glu404LeufsTer?
ENST00000710265.1:c.*145_*148del	ENSP00000518161.1:n.*145_*148del
ENST00000688158.2:n.1851_1854del
ENST00000688922.2:c.*946_*949del	ENSP00000508742.2:n.*946_*949del
ENST00000700021.1:c.1071_1074del	ENSP00000514757.1:p.Glu358LeufsTer?
ENST00000700022.1:c.*455_*458del	ENSP00000514758.1:n.*455_*458del
ENST00000700023.1:n.2274_2277del
ENST00000700024.1:n.2508_2511del
ENST00000706954.1:c.1116_1119del	ENSP00000516674.1:p.Glu373LeufsTer?
ENST00000706955.1:c.*1151_*1154del	ENSP00000516675.1:n.*1151_*1154del
ENST00000686459.1:c.*702_*705del	ENSP00000508909.1:n.*702_*705del
ENST00000688158.1:c.*1227_*1230del	ENSP00000509254.1:n.*1227_*1230del
ENST00000688308.1:c.1116_1119del	ENSP00000508752.1:p.Glu373LeufsTer?
ENST00000688922.1:c.1037_1040del
ENST00000693560.1:c.1635_1638del	ENSP00000509861.1:p.Glu546LeufsTer?
ENST00000371953.8:c.1116_1119del MANE Select	ENSP00000361021.3:p.Glu373LeufsTer?
ENST00000371953.7:c.1116_1119del	ENSP00000361021.3:p.Glu373LeufsTer?
NM_000314.5:c.1116_1119del	NP_000305.3:p.Glu373LeufsTer?
NM_000314.6:c.1116_1119del	NP_000305.3:p.Glu373LeufsTer?
NM_001304717.2:c.1635_1638del	NP_001291646.2:p.Glu546LeufsTer?
NM_001304718.1:c.525_528del	NP_001291647.1:p.Glu176LeufsTer?
XM_006717926.2:c.1071_1074del	XP_006717989.1:p.Glu358LeufsTer?
XM_011539982.1:c.1020_1023del	XP_011538284.1:p.Glu341LeufsTer?
XR_945791.1:n.1686_1689del
NM_000314.7:c.1116_1119del	NP_000305.3:p.Glu373LeufsTer?
NM_001304717.5:c.1635_1638del	NP_001291646.4:p.Glu546LeufsTer?
NM_001304718.2:c.525_528del	NP_001291647.1:p.Glu176LeufsTer?
NM_000314.8:c.1116_1119del MANE Select	NP_000305.3:p.Glu373LeufsTer?