Canonical Allele Identifier: CA645369479

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428213
• ClinVar RCV Id: RCV000491907
• dbSNP Id: rs1114167638
• MyVariant Identifiers: chr10:g.89720842_89720843dup (hg19) ; chr10:g.87961085_87961086dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961085_87961086dup , CM000672.2:g.87961085_87961086dup	GRCh38
NC_000010.10:g.89720842_89720843dup , CM000672.1:g.89720842_89720843dup	GRCh37
NC_000010.9:g.89710822_89710823dup	NCBI36
NG_007466.2:g.102647_102648dup , LRG_311:g.102647_102648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1086_1087dup	ENSP00000514759.2:p.Lys363ThrfsTer13
ENST00000710265.1:c.993_994dup	ENSP00000518161.1:p.Lys332ThrfsTer16
ENST00000472832.3:c.993_994dup	ENSP00000483066.2:p.Lys332ThrfsTer?
ENST00000688158.2:n.1728_1729dup
ENST00000688922.2:c.*823_*824dup	ENSP00000508742.2:n.*823_*824dup
ENST00000700021.1:c.948_949dup	ENSP00000514757.1:p.Lys317ThrfsTer13
ENST00000700022.1:c.*332_*333dup	ENSP00000514758.1:n.*332_*333dup
ENST00000700023.1:n.2151_2152dup
ENST00000700024.1:n.2385_2386dup
ENST00000700025.1:n.1762_1763dup
ENST00000700026.1:n.630_631dup
ENST00000706954.1:c.993_994dup	ENSP00000516674.1:p.Lys332ThrfsTer13
ENST00000706955.1:c.*1028_*1029dup	ENSP00000516675.1:n.*1028_*1029dup
ENST00000686459.1:c.*579_*580dup	ENSP00000508909.1:n.*579_*580dup
ENST00000688158.1:c.*1104_*1105dup	ENSP00000509254.1:n.*1104_*1105dup
ENST00000688308.1:c.993_994dup	ENSP00000508752.1:p.Lys332ThrfsTer13
ENST00000688922.1:c.914_915dup
ENST00000693560.1:c.1512_1513dup	ENSP00000509861.1:p.Lys505ThrfsTer13
ENST00000371953.8:c.993_994dup MANE Select	ENSP00000361021.3:p.Lys332ThrfsTer13
ENST00000371953.7:c.993_994dup	ENSP00000361021.3:p.Lys332ThrfsTer13
ENST00000472832.2:c.420_421dup	ENSP00000483066.1:p.Lys141ThrfsTer?
NM_000314.5:c.993_994dup	NP_000305.3:p.Lys332ThrfsTer13
NM_000314.6:c.993_994dup	NP_000305.3:p.Lys332ThrfsTer13
NM_001304717.2:c.1512_1513dup	NP_001291646.2:p.Lys505ThrfsTer13
NM_001304718.1:c.402_403dup	NP_001291647.1:p.Lys135ThrfsTer13
XM_006717926.2:c.948_949dup	XP_006717989.1:p.Lys317ThrfsTer13
XM_011539981.1:c.993_994dup	XP_011538283.1:p.Lys332ThrfsTer16
XM_011539982.1:c.897_898dup	XP_011538284.1:p.Lys300ThrfsTer13
XR_945791.1:n.1563_1564dup
NM_000314.7:c.993_994dup	NP_000305.3:p.Lys332ThrfsTer13
NM_001304717.5:c.1512_1513dup	NP_001291646.4:p.Lys505ThrfsTer13
NM_001304718.2:c.402_403dup	NP_001291647.1:p.Lys135ThrfsTer13
NM_000314.8:c.993_994dup MANE Select	NP_000305.3:p.Lys332ThrfsTer13