Canonical Allele Identifier: CA2695200900

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673919
• ClinVar RCV Id: RCV003450533

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960960_87960984del , CM000672.2:g.87960960_87960984del	GRCh38
NC_000010.10:g.89720717_89720741del , CM000672.1:g.89720717_89720741del	GRCh37
NC_000010.9:g.89710697_89710721del	NCBI36
NG_007466.2:g.102522_102546del , LRG_311:g.102522_102546del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.961_985del	ENSP00000514759.2:p.Val321LysfsTer9
ENST00000710265.1:c.868_892del	ENSP00000518161.1:p.Val290LysfsTer9
ENST00000472832.3:c.868_892del	ENSP00000483066.2:p.Val290LysfsTer9
ENST00000688158.2:n.1603_1627del
ENST00000688922.2:c.*698_*722del	ENSP00000508742.2:n.*698_*722del
ENST00000700021.1:c.823_847del	ENSP00000514757.1:p.Val275LysfsTer9
ENST00000700022.1:c.*207_*231del	ENSP00000514758.1:n.*207_*231del
ENST00000700023.1:n.2026_2050del
ENST00000700024.1:n.2260_2284del
ENST00000700025.1:n.1637_1661del
ENST00000700026.1:n.505_529del
ENST00000706954.1:c.868_892del	ENSP00000516674.1:p.Val290LysfsTer9
ENST00000706955.1:c.*903_*927del	ENSP00000516675.1:n.*903_*927del
ENST00000686459.1:c.*454_*478del	ENSP00000508909.1:n.*454_*478del
ENST00000688158.1:c.*979_*1003del	ENSP00000509254.1:n.*979_*1003del
ENST00000688308.1:c.868_892del	ENSP00000508752.1:p.Val290LysfsTer9
ENST00000688922.1:c.789_813del
ENST00000693560.1:c.1387_1411del	ENSP00000509861.1:p.Val463LysfsTer9
ENST00000371953.8:c.868_892del MANE Select	ENSP00000361021.3:p.Val290LysfsTer9
ENST00000371953.7:c.868_892del	ENSP00000361021.3:p.Val290LysfsTer9
ENST00000472832.2:c.295_319del	ENSP00000483066.1:p.Val99LysfsTer9
NM_000314.5:c.868_892del	NP_000305.3:p.Val290LysfsTer9
NM_000314.6:c.868_892del	NP_000305.3:p.Val290LysfsTer9
NM_001304717.2:c.1387_1411del	NP_001291646.2:p.Val463LysfsTer9
NM_001304718.1:c.277_301del	NP_001291647.1:p.Val93LysfsTer9
XM_006717926.2:c.823_847del	XP_006717989.1:p.Val275LysfsTer9
XM_011539981.1:c.868_892del	XP_011538283.1:p.Val290LysfsTer9
XM_011539982.1:c.772_796del	XP_011538284.1:p.Val258LysfsTer9
XR_945791.1:n.1438_1462del
NM_000314.7:c.868_892del	NP_000305.3:p.Val290LysfsTer9
NM_001304717.5:c.1387_1411del	NP_001291646.4:p.Val463LysfsTer9
NM_001304718.2:c.277_301del	NP_001291647.1:p.Val93LysfsTer9
NM_000314.8:c.868_892del MANE Select	NP_000305.3:p.Val290LysfsTer9