Canonical Allele Identifier: CA2695200933

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2674339
• ClinVar RCV Id: RCV003452535

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894067_87894080del , CM000672.2:g.87894067_87894080del	GRCh38
NC_000010.10:g.89653824_89653837del , CM000672.1:g.89653824_89653837del	GRCh37
NC_000010.9:g.89643804_89643817del	NCBI36
NG_007466.2:g.35629_35642del , LRG_311:g.35629_35642del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.122_135del	ENSP00000514759.2:p.Arg41IlefsTer6
ENST00000710265.1:c.122_135del	ENSP00000518161.1:p.Arg41IlefsTer6
ENST00000472832.3:c.122_135del	ENSP00000483066.2:p.Arg41IlefsTer6
ENST00000688158.2:n.899+13629_899+13642del
ENST00000688922.2:c.122_135del	ENSP00000508742.2:p.Arg41IlefsTer6
ENST00000700021.1:c.122_135del	ENSP00000514757.1:p.Arg41IlefsTer6
ENST00000700022.1:c.122_135del	ENSP00000514758.1:p.Arg41IlefsTer6
ENST00000706954.1:c.122_135del	ENSP00000516674.1:p.Arg41IlefsTer6
ENST00000706955.1:c.*157_*170del	ENSP00000516675.1:n.*157_*170del
ENST00000686459.1:c.122_135del	ENSP00000508909.1:p.Arg41IlefsTer6
ENST00000688158.1:c.*275+13629_*275+13642del	ENSP00000509254.1:n.*275+13629_*275+13642del
ENST00000688308.1:c.122_135del	ENSP00000508752.1:p.Arg41IlefsTer6
ENST00000693560.1:c.641_654del	ENSP00000509861.1:p.Arg214IlefsTer6
ENST00000371953.8:c.122_135del MANE Select	ENSP00000361021.3:p.Arg41IlefsTer6
ENST00000371953.7:c.122_135del	ENSP00000361021.3:p.Arg41IlefsTer6
ENST00000462694.1:n.124_137del
ENST00000610634.1:c.20_33del	ENSP00000477517.1:p.Arg7IlefsTer6
NM_000314.5:c.122_135del	NP_000305.3:p.Arg41IlefsTer6
NM_000314.6:c.122_135del	NP_000305.3:p.Arg41IlefsTer6
NM_001304717.2:c.641_654del	NP_001291646.2:p.Arg214IlefsTer6
NM_001304718.1:c.-584_-571del	NP_001291647.1:n.-584_-571del
XM_006717926.2:c.122_135del	XP_006717989.1:p.Arg41IlefsTer6
XM_011539981.1:c.122_135del	XP_011538283.1:p.Arg41IlefsTer6
XM_011539982.1:c.68+13629_68+13642del	XP_011538284.1:n.68+13629_68+13642del
XR_945789.1:n.834_847del
XR_945790.1:n.834_847del
XR_945791.1:n.834_847del
NM_000314.7:c.122_135del	NP_000305.3:p.Arg41IlefsTer6
NM_001304717.5:c.641_654del	NP_001291646.4:p.Arg214IlefsTer6
NM_001304718.2:c.-584_-571del	NP_001291647.1:n.-584_-571del
NM_000314.8:c.122_135del MANE Select	NP_000305.3:p.Arg41IlefsTer6