Canonical Allele Identifier: CA2580082392

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1768621
• ClinVar RCV Id: RCV002382838

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961084_87961089del , CM000672.2:g.87961084_87961089del	GRCh38
NC_000010.10:g.89720841_89720846del , CM000672.1:g.89720841_89720846del	GRCh37
NC_000010.9:g.89710821_89710826del	NCBI36
NG_007466.2:g.102646_102651del , LRG_311:g.102646_102651del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1085_1090del	ENSP00000514759.2:p.Asp362_Lys363del
ENST00000710265.1:c.992_997del	ENSP00000518161.1:p.Asp331_Lys332del
ENST00000472832.3:c.992_997del	ENSP00000483066.2:p.Asp331_Lys332del
ENST00000688158.2:n.1727_1732del
ENST00000688922.2:c.*822_*827del	ENSP00000508742.2:n.*822_*827del
ENST00000700021.1:c.947_952del	ENSP00000514757.1:p.Asp316_Lys317del
ENST00000700022.1:c.*331_*336del	ENSP00000514758.1:n.*331_*336del
ENST00000700023.1:n.2150_2155del
ENST00000700024.1:n.2384_2389del
ENST00000700025.1:n.1761_1766del
ENST00000700026.1:n.629_634del
ENST00000706954.1:c.992_997del	ENSP00000516674.1:p.Asp331_Lys332del
ENST00000706955.1:c.*1027_*1032del	ENSP00000516675.1:n.*1027_*1032del
ENST00000686459.1:c.*578_*583del	ENSP00000508909.1:n.*578_*583del
ENST00000688158.1:c.*1103_*1108del	ENSP00000509254.1:n.*1103_*1108del
ENST00000688308.1:c.992_997del	ENSP00000508752.1:p.Asp331_Lys332del
ENST00000688922.1:c.913_918del
ENST00000693560.1:c.1511_1516del	ENSP00000509861.1:p.Asp504_Lys505del
ENST00000371953.8:c.992_997del MANE Select	ENSP00000361021.3:p.Asp331_Lys332del
ENST00000371953.7:c.992_997del	ENSP00000361021.3:p.Asp331_Lys332del
ENST00000472832.2:c.419_424del	ENSP00000483066.1:p.Asp140_Lys141del
NM_000314.5:c.992_997del	NP_000305.3:p.Asp331_Lys332del
NM_000314.6:c.992_997del	NP_000305.3:p.Asp331_Lys332del
NM_001304717.2:c.1511_1516del	NP_001291646.2:p.Asp504_Lys505del
NM_001304718.1:c.401_406del	NP_001291647.1:p.Asp134_Lys135del
XM_006717926.2:c.947_952del	XP_006717989.1:p.Asp316_Lys317del
XM_011539981.1:c.992_997del	XP_011538283.1:p.Asp331_Lys332del
XM_011539982.1:c.896_901del	XP_011538284.1:p.Asp299_Lys300del
XR_945791.1:n.1562_1567del
NM_000314.7:c.992_997del	NP_000305.3:p.Asp331_Lys332del
NM_001304717.5:c.1511_1516del	NP_001291646.4:p.Asp504_Lys505del
NM_001304718.2:c.401_406del	NP_001291647.1:p.Asp134_Lys135del
NM_000314.8:c.992_997del MANE Select	NP_000305.3:p.Asp331_Lys332del