Canonical Allele Identifier: CA2697558588

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2687583
• ClinVar RCV Id: RCV003484332

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933160_87933161delinsA , CM000672.2:g.87933160_87933161delinsA	GRCh38
NC_000010.10:g.89692917_89692918delinsA , CM000672.1:g.89692917_89692918delinsA	GRCh37
NC_000010.9:g.89682897_89682898delinsA	NCBI36
NG_007466.2:g.74722_74723delinsA , LRG_311:g.74722_74723delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.401_402delinsA	ENSP00000514759.2:p.Met134LysfsTer13
ENST00000710265.1:c.401_402delinsA	ENSP00000518161.1:p.Met134LysfsTer13
ENST00000472832.3:c.401_402delinsA	ENSP00000483066.2:p.Met134LysfsTer13
ENST00000688158.2:n.1136_1137delinsA
ENST00000688922.2:c.*231_*232delinsA	ENSP00000508742.2:n.*231_*232delinsA
ENST00000700021.1:c.356_357delinsA	ENSP00000514757.1:p.Met119LysfsTer13
ENST00000700022.1:c.401_402delinsA	ENSP00000514758.1:p.Met134LysfsTer13
ENST00000700029.1:c.235_236delinsA
ENST00000706954.1:c.401_402delinsA	ENSP00000516674.1:p.Met134LysfsTer13
ENST00000706955.1:c.*436_*437delinsA	ENSP00000516675.1:n.*436_*437delinsA
ENST00000686459.1:c.401_402delinsA	ENSP00000508909.1:p.Met134LysfsTer13
ENST00000688158.1:c.*512_*513delinsA	ENSP00000509254.1:n.*512_*513delinsA
ENST00000688308.1:c.401_402delinsA	ENSP00000508752.1:p.Met134LysfsTer13
ENST00000688922.1:c.322_323delinsA
ENST00000693560.1:c.920_921delinsA	ENSP00000509861.1:p.Met307LysfsTer13
ENST00000371953.8:c.401_402delinsA MANE Select	ENSP00000361021.3:p.Met134LysfsTer13
ENST00000371953.7:c.401_402delinsA	ENSP00000361021.3:p.Met134LysfsTer13
ENST00000498703.1:n.227_228delinsA
ENST00000610634.1:c.299_300delinsA	ENSP00000477517.1:p.Met100LysfsTer13
NM_000314.5:c.401_402delinsA	NP_000305.3:p.Met134LysfsTer13
NM_000314.6:c.401_402delinsA	NP_000305.3:p.Met134LysfsTer13
NM_001304717.2:c.920_921delinsA	NP_001291646.2:p.Met307LysfsTer13
NM_001304718.1:c.-350_-349delinsA	NP_001291647.1:n.-350_-349delinsA
XM_006717926.2:c.356_357delinsA	XP_006717989.1:p.Met119LysfsTer13
XM_011539981.1:c.401_402delinsA	XP_011538283.1:p.Met134LysfsTer13
XM_011539982.1:c.305_306delinsA	XP_011538284.1:p.Met102LysfsTer13
XR_945789.1:n.1113_1114delinsA
XR_945790.1:n.1113_1114delinsA
XR_945791.1:n.1113_1114delinsA
NM_000314.7:c.401_402delinsA	NP_000305.3:p.Met134LysfsTer13
NM_001304717.5:c.920_921delinsA	NP_001291646.4:p.Met307LysfsTer13
NM_001304718.2:c.-350_-349delinsA	NP_001291647.1:n.-350_-349delinsA
NM_000314.8:c.401_402delinsA MANE Select	NP_000305.3:p.Met134LysfsTer13