Canonical Allele Identifier: CA2580082393

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1798401
• ClinVar RCV Id: RCV002442215

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961092_87961095dup , CM000672.2:g.87961092_87961095dup	GRCh38
NC_000010.10:g.89720849_89720852dup , CM000672.1:g.89720849_89720852dup	GRCh37
NC_000010.9:g.89710829_89710832dup	NCBI36
NG_007466.2:g.102654_102657dup , LRG_311:g.102654_102657dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1093_1096dup	ENSP00000514759.2:p.Arg366GlnfsTer9
ENST00000710265.1:c.1000_1003dup	ENSP00000518161.1:p.Arg335GlnfsTer9
ENST00000472832.3:c.1000_1003dup	ENSP00000483066.2:p.Arg335GlnfsTer9
ENST00000688158.2:n.1735_1738dup
ENST00000688922.2:c.*830_*833dup	ENSP00000508742.2:n.*830_*833dup
ENST00000700021.1:c.955_958dup	ENSP00000514757.1:p.Arg320GlnfsTer9
ENST00000700022.1:c.*339_*342dup	ENSP00000514758.1:n.*339_*342dup
ENST00000700023.1:n.2158_2161dup
ENST00000700024.1:n.2392_2395dup
ENST00000700025.1:n.1769_1772dup
ENST00000700026.1:n.637_640dup
ENST00000706954.1:c.1000_1003dup	ENSP00000516674.1:p.Arg335GlnfsTer9
ENST00000706955.1:c.*1035_*1038dup	ENSP00000516675.1:n.*1035_*1038dup
ENST00000686459.1:c.*586_*589dup	ENSP00000508909.1:n.*586_*589dup
ENST00000688158.1:c.*1111_*1114dup	ENSP00000509254.1:n.*1111_*1114dup
ENST00000688308.1:c.1000_1003dup	ENSP00000508752.1:p.Arg335GlnfsTer9
ENST00000688922.1:c.921_924dup
ENST00000693560.1:c.1519_1522dup	ENSP00000509861.1:p.Arg508GlnfsTer9
ENST00000371953.8:c.1000_1003dup MANE Select	ENSP00000361021.3:p.Arg335GlnfsTer9
ENST00000371953.7:c.1000_1003dup	ENSP00000361021.3:p.Arg335GlnfsTer9
ENST00000472832.2:c.427_430dup	ENSP00000483066.1:p.Arg144GlnfsTer9
NM_000314.5:c.1000_1003dup	NP_000305.3:p.Arg335GlnfsTer9
NM_000314.6:c.1000_1003dup	NP_000305.3:p.Arg335GlnfsTer9
NM_001304717.2:c.1519_1522dup	NP_001291646.2:p.Arg508GlnfsTer9
NM_001304718.1:c.409_412dup	NP_001291647.1:p.Arg138GlnfsTer9
XM_006717926.2:c.955_958dup	XP_006717989.1:p.Arg320GlnfsTer9
XM_011539981.1:c.1000_1003dup	XP_011538283.1:p.Arg335GlnfsTer9
XM_011539982.1:c.904_907dup	XP_011538284.1:p.Arg303GlnfsTer9
XR_945791.1:n.1570_1573dup
NM_000314.7:c.1000_1003dup	NP_000305.3:p.Arg335GlnfsTer9
NM_001304717.5:c.1519_1522dup	NP_001291646.4:p.Arg508GlnfsTer9
NM_001304718.2:c.409_412dup	NP_001291647.1:p.Arg138GlnfsTer9
NM_000314.8:c.1000_1003dup MANE Select	NP_000305.3:p.Arg335GlnfsTer9