Canonical Allele Identifier: CA891839416

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957876_87957878delinsGTT , CM000672.2:g.87957876_87957878delinsGTT	GRCh38
NC_000010.10:g.89717633_89717635delinsGTT , CM000672.1:g.89717633_89717635delinsGTT	GRCh37
NC_000010.9:g.89707613_89707615delinsGTT	NCBI36
NG_007466.2:g.99438_99440delinsGTT , LRG_311:g.99438_99440delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.658_660delinsGTT	ENSP00000514759.2:p.Leu220Val
ENST00000710265.1:c.658_660delinsGTT	ENSP00000518161.1:p.Leu220Val
ENST00000472832.3:c.658_660delinsGTT	ENSP00000483066.2:p.Leu220Val
ENST00000688158.2:n.1393_1395delinsGTT
ENST00000688922.2:c.*488_*490delinsGTT	ENSP00000508742.2:n.*488_*490delinsGTT
ENST00000700021.1:c.613_615delinsGTT	ENSP00000514757.1:p.Leu205Val
ENST00000700022.1:c.516_518delinsGTT	ENSP00000514758.1:p.Ser172_Ter173delinsArgLeu
ENST00000700023.1:n.1816_1818delinsGTT
ENST00000700024.1:n.2050_2052delinsGTT
ENST00000700025.1:n.1427_1429delinsGTT
ENST00000700026.1:n.295_297delinsGTT
ENST00000700029.1:c.492_494delinsGTT
ENST00000706954.1:c.658_660delinsGTT	ENSP00000516674.1:p.Leu220Val
ENST00000706955.1:c.*693_*695delinsGTT	ENSP00000516675.1:n.*693_*695delinsGTT
ENST00000686459.1:c.*244_*246delinsGTT	ENSP00000508909.1:n.*244_*246delinsGTT
ENST00000688158.1:c.*769_*771delinsGTT	ENSP00000509254.1:n.*769_*771delinsGTT
ENST00000688308.1:c.658_660delinsGTT	ENSP00000508752.1:p.Leu220Val
ENST00000688922.1:c.579_581delinsGTT
ENST00000693560.1:c.1177_1179delinsGTT	ENSP00000509861.1:p.Leu393Val
ENST00000371953.8:c.658_660delinsGTT MANE Select	ENSP00000361021.3:p.Leu220Val
ENST00000371953.7:c.658_660delinsGTT	ENSP00000361021.3:p.Leu220Val
ENST00000472832.2:c.85_87delinsGTT	ENSP00000483066.1:p.Leu29Val
NM_000314.5:c.658_660delinsGTT	NP_000305.3:p.Leu220Val
NM_000314.6:c.658_660delinsGTT	NP_000305.3:p.Leu220Val
NM_001304717.2:c.1177_1179delinsGTT	NP_001291646.2:p.Leu393Val
NM_001304718.1:c.67_69delinsGTT	NP_001291647.1:p.Leu23Val
XM_006717926.2:c.613_615delinsGTT	XP_006717989.1:p.Leu205Val
XM_011539981.1:c.658_660delinsGTT	XP_011538283.1:p.Leu220Val
XM_011539982.1:c.562_564delinsGTT	XP_011538284.1:p.Leu188Val
XR_945791.1:n.1228_1230delinsGTT
NM_000314.7:c.658_660delinsGTT	NP_000305.3:p.Leu220Val
NM_001304717.5:c.1177_1179delinsGTT	NP_001291646.4:p.Leu393Val
NM_001304718.2:c.67_69delinsGTT	NP_001291647.1:p.Leu23Val
NM_000314.8:c.658_660delinsGTT MANE Select	NP_000305.3:p.Leu220Val