Canonical Allele Identifier: CA891839417

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957876_87957878delinsGCT , CM000672.2:g.87957876_87957878delinsGCT	GRCh38
NC_000010.10:g.89717633_89717635delinsGCT , CM000672.1:g.89717633_89717635delinsGCT	GRCh37
NC_000010.9:g.89707613_89707615delinsGCT	NCBI36
NG_007466.2:g.99438_99440delinsGCT , LRG_311:g.99438_99440delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.658_660delinsGCT	ENSP00000514759.2:p.Leu220Ala
ENST00000710265.1:c.658_660delinsGCT	ENSP00000518161.1:p.Leu220Ala
ENST00000472832.3:c.658_660delinsGCT	ENSP00000483066.2:p.Leu220Ala
ENST00000688158.2:n.1393_1395delinsGCT
ENST00000688922.2:c.*488_*490delinsGCT	ENSP00000508742.2:n.*488_*490delinsGCT
ENST00000700021.1:c.613_615delinsGCT	ENSP00000514757.1:p.Leu205Ala
ENST00000700022.1:c.516_518delinsGCT	ENSP00000514758.1:p.Ser172_Ter173delinsArgLeu
ENST00000700023.1:n.1816_1818delinsGCT
ENST00000700024.1:n.2050_2052delinsGCT
ENST00000700025.1:n.1427_1429delinsGCT
ENST00000700026.1:n.295_297delinsGCT
ENST00000700029.1:c.492_494delinsGCT
ENST00000706954.1:c.658_660delinsGCT	ENSP00000516674.1:p.Leu220Ala
ENST00000706955.1:c.*693_*695delinsGCT	ENSP00000516675.1:n.*693_*695delinsGCT
ENST00000686459.1:c.*244_*246delinsGCT	ENSP00000508909.1:n.*244_*246delinsGCT
ENST00000688158.1:c.*769_*771delinsGCT	ENSP00000509254.1:n.*769_*771delinsGCT
ENST00000688308.1:c.658_660delinsGCT	ENSP00000508752.1:p.Leu220Ala
ENST00000688922.1:c.579_581delinsGCT
ENST00000693560.1:c.1177_1179delinsGCT	ENSP00000509861.1:p.Leu393Ala
ENST00000371953.8:c.658_660delinsGCT MANE Select	ENSP00000361021.3:p.Leu220Ala
ENST00000371953.7:c.658_660delinsGCT	ENSP00000361021.3:p.Leu220Ala
ENST00000472832.2:c.85_87delinsGCT	ENSP00000483066.1:p.Leu29Ala
NM_000314.5:c.658_660delinsGCT	NP_000305.3:p.Leu220Ala
NM_000314.6:c.658_660delinsGCT	NP_000305.3:p.Leu220Ala
NM_001304717.2:c.1177_1179delinsGCT	NP_001291646.2:p.Leu393Ala
NM_001304718.1:c.67_69delinsGCT	NP_001291647.1:p.Leu23Ala
XM_006717926.2:c.613_615delinsGCT	XP_006717989.1:p.Leu205Ala
XM_011539981.1:c.658_660delinsGCT	XP_011538283.1:p.Leu220Ala
XM_011539982.1:c.562_564delinsGCT	XP_011538284.1:p.Leu188Ala
XR_945791.1:n.1228_1230delinsGCT
NM_000314.7:c.658_660delinsGCT	NP_000305.3:p.Leu220Ala
NM_001304717.5:c.1177_1179delinsGCT	NP_001291646.4:p.Leu393Ala
NM_001304718.2:c.67_69delinsGCT	NP_001291647.1:p.Leu23Ala
NM_000314.8:c.658_660delinsGCT MANE Select	NP_000305.3:p.Leu220Ala