Canonical Allele Identifier: CA470973978

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1334096
• ClinVar RCV Id: RCV001809311
• dbSNP Id: rs2132282499
• COSMIC: COSM28899
• MyVariant Identifiers: chr10:g.89720747del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960990del , CM000672.2:g.87960990del	GRCh38
NC_000010.10:g.89720747del , CM000672.1:g.89720747del	GRCh37
NC_000010.9:g.89710727del	NCBI36
NG_007466.2:g.102552del , LRG_311:g.102552del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.991del	ENSP00000514759.2:p.Ile331SerfsTer7
ENST00000710265.1:c.898del	ENSP00000518161.1:p.Ile300SerfsTer7
ENST00000472832.3:c.898del	ENSP00000483066.2:p.Ile300SerfsTer7
ENST00000688158.2:n.1633del
ENST00000688922.2:c.*728del	ENSP00000508742.2:n.*728del
ENST00000700021.1:c.853del	ENSP00000514757.1:p.Ile285SerfsTer7
ENST00000700022.1:c.*237del	ENSP00000514758.1:n.*237del
ENST00000700023.1:n.2056del
ENST00000700024.1:n.2290del
ENST00000700025.1:n.1667del
ENST00000700026.1:n.535del
ENST00000706954.1:c.898del	ENSP00000516674.1:p.Ile300SerfsTer7
ENST00000706955.1:c.*933del	ENSP00000516675.1:n.*933del
ENST00000686459.1:c.*484del	ENSP00000508909.1:n.*484del
ENST00000688158.1:c.*1009del	ENSP00000509254.1:n.*1009del
ENST00000688308.1:c.898del	ENSP00000508752.1:p.Ile300SerfsTer7
ENST00000688922.1:c.819del
ENST00000693560.1:c.1417del	ENSP00000509861.1:p.Ile473SerfsTer7
ENST00000371953.8:c.898del MANE Select	ENSP00000361021.3:p.Ile300SerfsTer7
ENST00000371953.7:c.898del	ENSP00000361021.3:p.Ile300SerfsTer7
ENST00000472832.2:c.325del	ENSP00000483066.1:p.Ile109SerfsTer7
NM_000314.5:c.898del	NP_000305.3:p.Ile300SerfsTer7
NM_000314.6:c.898del	NP_000305.3:p.Ile300SerfsTer7
NM_001304717.2:c.1417del	NP_001291646.2:p.Ile473SerfsTer7
NM_001304718.1:c.307del	NP_001291647.1:p.Ile103SerfsTer7
XM_006717926.2:c.853del	XP_006717989.1:p.Ile285SerfsTer7
XM_011539981.1:c.898del	XP_011538283.1:p.Ile300SerfsTer7
XM_011539982.1:c.802del	XP_011538284.1:p.Ile268SerfsTer7
XR_945791.1:n.1468del
NM_000314.7:c.898del	NP_000305.3:p.Ile300SerfsTer7
NM_001304717.5:c.1417del	NP_001291646.4:p.Ile473SerfsTer7
NM_001304718.2:c.307del	NP_001291647.1:p.Ile103SerfsTer7
NM_000314.8:c.898del MANE Select	NP_000305.3:p.Ile300SerfsTer7