Canonical Allele Identifier: CA891840441

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957876_87957877delinsGC , CM000672.2:g.87957876_87957877delinsGC	GRCh38
NC_000010.10:g.89717633_89717634delinsGC , CM000672.1:g.89717633_89717634delinsGC	GRCh37
NC_000010.9:g.89707613_89707614delinsGC	NCBI36
NG_007466.2:g.99438_99439delinsGC , LRG_311:g.99438_99439delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.658_659delinsGC	ENSP00000514759.2:p.Leu220Ala
ENST00000710265.1:c.658_659delinsGC	ENSP00000518161.1:p.Leu220Ala
ENST00000472832.3:c.658_659delinsGC	ENSP00000483066.2:p.Leu220Ala
ENST00000688158.2:n.1393_1394delinsGC
ENST00000688922.2:c.*488_*489delinsGC	ENSP00000508742.2:n.*488_*489delinsGC
ENST00000700021.1:c.613_614delinsGC	ENSP00000514757.1:p.Leu205Ala
ENST00000700022.1:c.516_517delinsGC	ENSP00000514758.1:p.Ser172_Ter173delinsArgGln
ENST00000700023.1:n.1816_1817delinsGC
ENST00000700024.1:n.2050_2051delinsGC
ENST00000700025.1:n.1427_1428delinsGC
ENST00000700026.1:n.295_296delinsGC
ENST00000700029.1:c.492_493delinsGC
ENST00000706954.1:c.658_659delinsGC	ENSP00000516674.1:p.Leu220Ala
ENST00000706955.1:c.*693_*694delinsGC	ENSP00000516675.1:n.*693_*694delinsGC
ENST00000686459.1:c.*244_*245delinsGC	ENSP00000508909.1:n.*244_*245delinsGC
ENST00000688158.1:c.*769_*770delinsGC	ENSP00000509254.1:n.*769_*770delinsGC
ENST00000688308.1:c.658_659delinsGC	ENSP00000508752.1:p.Leu220Ala
ENST00000688922.1:c.579_580delinsGC
ENST00000693560.1:c.1177_1178delinsGC	ENSP00000509861.1:p.Leu393Ala
ENST00000371953.8:c.658_659delinsGC MANE Select	ENSP00000361021.3:p.Leu220Ala
ENST00000371953.7:c.658_659delinsGC	ENSP00000361021.3:p.Leu220Ala
ENST00000472832.2:c.85_86delinsGC	ENSP00000483066.1:p.Leu29Ala
NM_000314.5:c.658_659delinsGC	NP_000305.3:p.Leu220Ala
NM_000314.6:c.658_659delinsGC	NP_000305.3:p.Leu220Ala
NM_001304717.2:c.1177_1178delinsGC	NP_001291646.2:p.Leu393Ala
NM_001304718.1:c.67_68delinsGC	NP_001291647.1:p.Leu23Ala
XM_006717926.2:c.613_614delinsGC	XP_006717989.1:p.Leu205Ala
XM_011539981.1:c.658_659delinsGC	XP_011538283.1:p.Leu220Ala
XM_011539982.1:c.562_563delinsGC	XP_011538284.1:p.Leu188Ala
XR_945791.1:n.1228_1229delinsGC
NM_000314.7:c.658_659delinsGC	NP_000305.3:p.Leu220Ala
NM_001304717.5:c.1177_1178delinsGC	NP_001291646.4:p.Leu393Ala
NM_001304718.2:c.67_68delinsGC	NP_001291647.1:p.Leu23Ala
NM_000314.8:c.658_659delinsGC MANE Select	NP_000305.3:p.Leu220Ala