Canonical Allele Identifier: CA2695200963

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673957
• ClinVar RCV Id: RCV003450564

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961080_87961106delinsTATCCATATAGATAATTTAACTGA , CM000672.2:g.87961080_87961106delinsTATCCATATAGATAATTTAACTGA	GRCh38
NC_000010.10:g.89720837_89720863delinsTATCCATATAGATAATTTAACTGA , CM000672.1:g.89720837_89720863delinsTATCCATATAGATAATTTAACTGA	GRCh37
NC_000010.9:g.89710817_89710843delinsTATCCATATAGATAATTTAACTGA	NCBI36
NG_007466.2:g.102642_102668delinsTATCCATATAGATAATTTAACTGA , LRG_311:g.102642_102668delinsTATCCATATAGATAATTTAACTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1081_1107delinsTATCCATATAGATAATTTAACTGA	ENSP00000514759.2:p.Lys361TyrfsTer5
ENST00000710265.1:c.988_1014delinsTATCCATATAGATAATTTAACTGA	ENSP00000518161.1:p.Lys330TyrfsTer5
ENST00000472832.3:c.988_1014delinsTATCCATATAGATAATTTAACTGA	ENSP00000483066.2:p.Lys330TyrfsTer5
ENST00000688158.2:n.1723_1749delinsTATCCATATAGATAATTTAACTGA
ENST00000688922.2:c.*818_*844delinsTATCCATATAGATAATTTAACTGA	ENSP00000508742.2:n.*818_*844delinsTATCCA...
ENST00000700021.1:c.943_969delinsTATCCATATAGATAATTTAACTGA	ENSP00000514757.1:p.Lys315TyrfsTer5
ENST00000700022.1:c.*327_*353delinsTATCCATATAGATAATTTAACTGA	ENSP00000514758.1:n.*327_*353delinsTATCCA...
ENST00000700023.1:n.2146_2172delinsTATCCATATAGATAATTTAACTGA
ENST00000700024.1:n.2380_2406delinsTATCCATATAGATAATTTAACTGA
ENST00000700025.1:n.1757_1783delinsTATCCATATAGATAATTTAACTGA
ENST00000700026.1:n.625_651delinsTATCCATATAGATAATTTAACTGA
ENST00000706954.1:c.988_1014delinsTATCCATATAGATAATTTAACTGA	ENSP00000516674.1:p.Lys330TyrfsTer5
ENST00000706955.1:c.*1023_*1049delinsTATCCATATAGATAATTTAACTGA	ENSP00000516675.1:n.*1023_*1049delinsTATC...
ENST00000686459.1:c.*574_*600delinsTATCCATATAGATAATTTAACTGA	ENSP00000508909.1:n.*574_*600delinsTATCCA...
ENST00000688158.1:c.*1099_*1125delinsTATCCATATAGATAATTTAACTGA	ENSP00000509254.1:n.*1099_*1125delinsTATC...
ENST00000688308.1:c.988_1014delinsTATCCATATAGATAATTTAACTGA	ENSP00000508752.1:p.Lys330TyrfsTer5
ENST00000688922.1:c.909_935delinsTATCCATATAGATAATTTAACTGA
ENST00000693560.1:c.1507_1533delinsTATCCATATAGATAATTTAACTGA	ENSP00000509861.1:p.Lys503TyrfsTer5
ENST00000371953.8:c.988_1014delinsTATCCATATAGATAATTTAACTGA MANE Select	ENSP00000361021.3:p.Lys330TyrfsTer5
ENST00000371953.7:c.988_1014delinsTATCCATATAGATAATTTAACTGA	ENSP00000361021.3:p.Lys330TyrfsTer5
ENST00000472832.2:c.415_441delinsTATCCATATAGATAATTTAACTGA	ENSP00000483066.1:p.Lys139TyrfsTer5
NM_000314.5:c.988_1014delinsTATCCATATAGATAATTTAACTGA	NP_000305.3:p.Lys330TyrfsTer5
NM_000314.6:c.988_1014delinsTATCCATATAGATAATTTAACTGA	NP_000305.3:p.Lys330TyrfsTer5
NM_001304717.2:c.1507_1533delinsTATCCATATAGATAATTTAACTGA	NP_001291646.2:p.Lys503TyrfsTer5
NM_001304718.1:c.397_423delinsTATCCATATAGATAATTTAACTGA	NP_001291647.1:p.Lys133TyrfsTer5
XM_006717926.2:c.943_969delinsTATCCATATAGATAATTTAACTGA	XP_006717989.1:p.Lys315TyrfsTer5
XM_011539981.1:c.988_1014delinsTATCCATATAGATAATTTAACTGA	XP_011538283.1:p.Lys330TyrfsTer5
XM_011539982.1:c.892_918delinsTATCCATATAGATAATTTAACTGA	XP_011538284.1:p.Lys298TyrfsTer5
XR_945791.1:n.1558_1584delinsTATCCATATAGATAATTTAACTGA
NM_000314.7:c.988_1014delinsTATCCATATAGATAATTTAACTGA	NP_000305.3:p.Lys330TyrfsTer5
NM_001304717.5:c.1507_1533delinsTATCCATATAGATAATTTAACTGA	NP_001291646.4:p.Lys503TyrfsTer5
NM_001304718.2:c.397_423delinsTATCCATATAGATAATTTAACTGA	NP_001291647.1:p.Lys133TyrfsTer5
NM_000314.8:c.988_1014delinsTATCCATATAGATAATTTAACTGA MANE Select	NP_000305.3:p.Lys330TyrfsTer5