Canonical Allele Identifier: CA891840715

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1052224
• ClinVar RCV Id: RCV001360365 ; RCV003298567
• dbSNP Id: rs2132187834

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894103_87894104delinsAT , CM000672.2:g.87894103_87894104delinsAT	GRCh38
NC_000010.10:g.89653860_89653861delinsAT , CM000672.1:g.89653860_89653861delinsAT	GRCh37
NC_000010.9:g.89643840_89643841delinsAT	NCBI36
NG_007466.2:g.35665_35666delinsAT , LRG_311:g.35665_35666delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.158_159delinsAT	ENSP00000514759.2:p.Val53Asp
ENST00000710265.1:c.158_159delinsAT	ENSP00000518161.1:p.Val53Asp
ENST00000472832.3:c.158_159delinsAT	ENSP00000483066.2:p.Val53Asp
ENST00000688158.2:n.899+13665_899+13666delinsAT
ENST00000688922.2:c.158_159delinsAT	ENSP00000508742.2:p.Val53Asp
ENST00000700021.1:c.158_159delinsAT	ENSP00000514757.1:p.Val53Asp
ENST00000700022.1:c.158_159delinsAT	ENSP00000514758.1:p.Val53Asp
ENST00000706954.1:c.158_159delinsAT	ENSP00000516674.1:p.Val53Asp
ENST00000706955.1:c.*193_*194delinsAT	ENSP00000516675.1:n.*193_*194delinsAT
ENST00000686459.1:c.158_159delinsAT	ENSP00000508909.1:p.Val53Asp
ENST00000688158.1:c.*275+13665_*275+13666delinsAT	ENSP00000509254.1:n.*275+13665_*275+13666delinsAT
ENST00000688308.1:c.158_159delinsAT	ENSP00000508752.1:p.Val53Asp
ENST00000688922.1:c.27_28delinsAT
ENST00000693560.1:c.677_678delinsAT	ENSP00000509861.1:p.Val226Asp
ENST00000371953.8:c.158_159delinsAT MANE Select	ENSP00000361021.3:p.Val53Asp
ENST00000371953.7:c.158_159delinsAT	ENSP00000361021.3:p.Val53Asp
ENST00000462694.1:n.160_161delinsAT
ENST00000610634.1:c.56_57delinsAT	ENSP00000477517.1:p.Val19Asp
NM_000314.5:c.158_159delinsAT	NP_000305.3:p.Val53Asp
NM_000314.6:c.158_159delinsAT	NP_000305.3:p.Val53Asp
NM_001304717.2:c.677_678delinsAT	NP_001291646.2:p.Val226Asp
NM_001304718.1:c.-548_-547delinsAT	NP_001291647.1:n.-548_-547delinsAT
XM_006717926.2:c.158_159delinsAT	XP_006717989.1:p.Val53Asp
XM_011539981.1:c.158_159delinsAT	XP_011538283.1:p.Val53Asp
XM_011539982.1:c.68+13665_68+13666delinsAT	XP_011538284.1:n.68+13665_68+13666delinsAT
XR_945789.1:n.870_871delinsAT
XR_945790.1:n.870_871delinsAT
XR_945791.1:n.870_871delinsAT
NM_000314.7:c.158_159delinsAT	NP_000305.3:p.Val53Asp
NM_001304717.5:c.677_678delinsAT	NP_001291646.4:p.Val226Asp
NM_001304718.2:c.-548_-547delinsAT	NP_001291647.1:n.-548_-547delinsAT
NM_000314.8:c.158_159delinsAT MANE Select	NP_000305.3:p.Val53Asp