Canonical Allele Identifier: CA891839415
Community Standard Title: NM_000314.8(PTEN):c.658_660delinsATT (p.Leu220Ile)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957876_87957878delinsATT , CM000672.2:g.87957876_87957878delinsATT GRCh38
NC_000010.10:g.89717633_89717635delinsATT , CM000672.1:g.89717633_89717635delinsATT GRCh37
NC_000010.9:g.89707613_89707615delinsATT NCBI36
NG_007466.2:g.99438_99440delinsATT , LRG_311:g.99438_99440delinsATT

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.658_660delinsATT MANE Select NP_000305.3:p.Leu220Ile
ENST00000371953.8:c.658_660delinsATT MANE Select ENSP00000361021.3:p.Leu220Ile
NM_000314.5:c.658_660delinsATT NP_000305.3:p.Leu220Ile
NM_000314.6:c.658_660delinsATT NP_000305.3:p.Leu220Ile
NM_000314.7:c.658_660delinsATT NP_000305.3:p.Leu220Ile
NM_001304717.2:c.1177_1179delinsATT NP_001291646.2:p.Leu393Ile
NM_001304717.5:c.1177_1179delinsATT NP_001291646.4:p.Leu393Ile
NM_001304718.1:c.67_69delinsATT NP_001291647.1:p.Leu23Ile
NM_001304718.2:c.67_69delinsATT NP_001291647.1:p.Leu23Ile
ENST00000371953.7:c.658_660delinsATT ENSP00000361021.3:p.Leu220Ile
ENST00000472832.2:c.85_87delinsATT ENSP00000483066.1:p.Leu29Ile
ENST00000472832.3:c.658_660delinsATT ENSP00000483066.2:p.Leu220Ile
ENST00000686459.1:c.*244_*246delinsATT ENSP00000508909.1:n.*244_*246delinsATT
ENST00000688158.1:c.*769_*771delinsATT ENSP00000509254.1:n.*769_*771delinsATT
ENST00000688158.2:n.1393_1395delinsATT
ENST00000688308.1:c.658_660delinsATT ENSP00000508752.1:p.Leu220Ile
ENST00000688922.1:c.579_581delinsATT
ENST00000688922.2:c.*488_*490delinsATT ENSP00000508742.2:n.*488_*490delinsATT
ENST00000693560.1:c.1177_1179delinsATT ENSP00000509861.1:p.Leu393Ile
ENST00000700021.1:c.613_615delinsATT ENSP00000514757.1:p.Leu205Ile
ENST00000700022.1:c.516_518delinsATT ENSP00000514758.1:p.Ser172_Ter173delinsArgLeu
ENST00000700023.1:n.1816_1818delinsATT
ENST00000700024.1:n.2050_2052delinsATT
ENST00000700025.1:n.1427_1429delinsATT
ENST00000700026.1:n.295_297delinsATT
ENST00000700029.1:c.492_494delinsATT
ENST00000700029.2:c.658_660delinsATT ENSP00000514759.2:p.Leu220Ile
ENST00000706954.1:c.658_660delinsATT ENSP00000516674.1:p.Leu220Ile
ENST00000706955.1:c.*693_*695delinsATT ENSP00000516675.1:n.*693_*695delinsATT
ENST00000710265.1:c.658_660delinsATT ENSP00000518161.1:p.Leu220Ile
XM_006717926.2:c.613_615delinsATT XP_006717989.1:p.Leu205Ile
XM_011539981.1:c.658_660delinsATT XP_011538283.1:p.Leu220Ile
XM_011539982.1:c.562_564delinsATT XP_011538284.1:p.Leu188Ile
XR_945791.1:n.1228_1230delinsATT