Canonical Allele Identifier: CA2695200893

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673960
• ClinVar RCV Id: RCV003450567

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960898_87960923del , CM000672.2:g.87960898_87960923del	GRCh38
NC_000010.10:g.89720655_89720680del , CM000672.1:g.89720655_89720680del	GRCh37
NC_000010.9:g.89710635_89710660del	NCBI36
NG_007466.2:g.102460_102485del , LRG_311:g.102460_102485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.899_924del	ENSP00000514759.2:p.Lys300IlefsTer20
ENST00000710265.1:c.806_831del	ENSP00000518161.1:p.Lys269IlefsTer20
ENST00000472832.3:c.806_831del	ENSP00000483066.2:p.Lys269IlefsTer20
ENST00000688158.2:n.1541_1566del
ENST00000688922.2:c.*636_*661del	ENSP00000508742.2:n.*636_*661del
ENST00000700021.1:c.761_786del	ENSP00000514757.1:p.Lys254IlefsTer20
ENST00000700022.1:c.*145_*170del	ENSP00000514758.1:n.*145_*170del
ENST00000700023.1:n.1964_1989del
ENST00000700024.1:n.2198_2223del
ENST00000700025.1:n.1575_1600del
ENST00000700026.1:n.443_468del
ENST00000700029.1:c.733_758del
ENST00000706954.1:c.806_831del	ENSP00000516674.1:p.Lys269IlefsTer20
ENST00000706955.1:c.*841_*866del	ENSP00000516675.1:n.*841_*866del
ENST00000686459.1:c.*392_*417del	ENSP00000508909.1:n.*392_*417del
ENST00000688158.1:c.*917_*942del	ENSP00000509254.1:n.*917_*942del
ENST00000688308.1:c.806_831del	ENSP00000508752.1:p.Lys269IlefsTer20
ENST00000688922.1:c.727_752del
ENST00000693560.1:c.1325_1350del	ENSP00000509861.1:p.Lys442IlefsTer20
ENST00000371953.8:c.806_831del MANE Select	ENSP00000361021.3:p.Lys269IlefsTer20
ENST00000371953.7:c.806_831del	ENSP00000361021.3:p.Lys269IlefsTer20
ENST00000472832.2:c.233_258del	ENSP00000483066.1:p.Lys78IlefsTer20
NM_000314.5:c.806_831del	NP_000305.3:p.Lys269IlefsTer20
NM_000314.6:c.806_831del	NP_000305.3:p.Lys269IlefsTer20
NM_001304717.2:c.1325_1350del	NP_001291646.2:p.Lys442IlefsTer20
NM_001304718.1:c.215_240del	NP_001291647.1:p.Lys72IlefsTer20
XM_006717926.2:c.761_786del	XP_006717989.1:p.Lys254IlefsTer20
XM_011539981.1:c.806_831del	XP_011538283.1:p.Lys269IlefsTer20
XM_011539982.1:c.710_735del	XP_011538284.1:p.Lys237IlefsTer20
XR_945791.1:n.1376_1401del
NM_000314.7:c.806_831del	NP_000305.3:p.Lys269IlefsTer20
NM_001304717.5:c.1325_1350del	NP_001291646.4:p.Lys442IlefsTer20
NM_001304718.2:c.215_240del	NP_001291647.1:p.Lys72IlefsTer20
NM_000314.8:c.806_831del MANE Select	NP_000305.3:p.Lys269IlefsTer20