Canonical Allele Identifier: CA2580082394

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1776639
• ClinVar RCV Id: RCV002401097

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961096_87961100del , CM000672.2:g.87961096_87961100del	GRCh38
NC_000010.10:g.89720853_89720857del , CM000672.1:g.89720853_89720857del	GRCh37
NC_000010.9:g.89710833_89710837del	NCBI36
NG_007466.2:g.102658_102662del , LRG_311:g.102658_102662del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1097_1101del	ENSP00000514759.2:p.Arg366LeufsTer6
ENST00000710265.1:c.1004_1008del	ENSP00000518161.1:p.Arg335LeufsTer6
ENST00000472832.3:c.1004_1008del	ENSP00000483066.2:p.Arg335LeufsTer6
ENST00000688158.2:n.1739_1743del
ENST00000688922.2:c.*834_*838del	ENSP00000508742.2:n.*834_*838del
ENST00000700021.1:c.959_963del	ENSP00000514757.1:p.Arg320LeufsTer6
ENST00000700022.1:c.*343_*347del	ENSP00000514758.1:n.*343_*347del
ENST00000700023.1:n.2162_2166del
ENST00000700024.1:n.2396_2400del
ENST00000700025.1:n.1773_1777del
ENST00000700026.1:n.641_645del
ENST00000706954.1:c.1004_1008del	ENSP00000516674.1:p.Arg335LeufsTer6
ENST00000706955.1:c.*1039_*1043del	ENSP00000516675.1:n.*1039_*1043del
ENST00000686459.1:c.*590_*594del	ENSP00000508909.1:n.*590_*594del
ENST00000688158.1:c.*1115_*1119del	ENSP00000509254.1:n.*1115_*1119del
ENST00000688308.1:c.1004_1008del	ENSP00000508752.1:p.Arg335LeufsTer6
ENST00000688922.1:c.925_929del
ENST00000693560.1:c.1523_1527del	ENSP00000509861.1:p.Arg508LeufsTer6
ENST00000371953.8:c.1004_1008del MANE Select	ENSP00000361021.3:p.Arg335LeufsTer6
ENST00000371953.7:c.1004_1008del	ENSP00000361021.3:p.Arg335LeufsTer6
ENST00000472832.2:c.431_435del	ENSP00000483066.1:p.Arg144LeufsTer6
NM_000314.5:c.1004_1008del	NP_000305.3:p.Arg335LeufsTer6
NM_000314.6:c.1004_1008del	NP_000305.3:p.Arg335LeufsTer6
NM_001304717.2:c.1523_1527del	NP_001291646.2:p.Arg508LeufsTer6
NM_001304718.1:c.413_417del	NP_001291647.1:p.Arg138LeufsTer6
XM_006717926.2:c.959_963del	XP_006717989.1:p.Arg320LeufsTer6
XM_011539981.1:c.1004_1008del	XP_011538283.1:p.Arg335LeufsTer6
XM_011539982.1:c.908_912del	XP_011538284.1:p.Arg303LeufsTer6
XR_945791.1:n.1574_1578del
NM_000314.7:c.1004_1008del	NP_000305.3:p.Arg335LeufsTer6
NM_001304717.5:c.1523_1527del	NP_001291646.4:p.Arg508LeufsTer6
NM_001304718.2:c.413_417del	NP_001291647.1:p.Arg138LeufsTer6
NM_000314.8:c.1004_1008del MANE Select	NP_000305.3:p.Arg335LeufsTer6