Canonical Allele Identifier: CA891840853
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957978_87957979delinsGC , CM000672.2:g.87957978_87957979delinsGC GRCh38
NC_000010.10:g.89717735_89717736delinsGC , CM000672.1:g.89717735_89717736delinsGC GRCh37
NC_000010.9:g.89707715_89707716delinsGC NCBI36
NG_007466.2:g.99540_99541delinsGC , LRG_311:g.99540_99541delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.760_761delinsGC ENSP00000514759.2:p.Lys254Ala
ENST00000710265.1:c.760_761delinsGC ENSP00000518161.1:p.Lys254Ala
ENST00000472832.3:c.760_761delinsGC ENSP00000483066.2:p.Lys254Ala
ENST00000688158.2:n.1495_1496delinsGC
ENST00000688922.2:c.*590_*591delinsGC ENSP00000508742.2:n.*590_*591delinsGC
ENST00000700021.1:c.715_716delinsGC ENSP00000514757.1:p.Lys239Ala
ENST00000700022.1:c.*99_*100delinsGC ENSP00000514758.1:n.*99_*100delinsGC
ENST00000700023.1:n.1918_1919delinsGC
ENST00000700024.1:n.2152_2153delinsGC
ENST00000700025.1:n.1529_1530delinsGC
ENST00000700026.1:n.397_398delinsGC
ENST00000700029.1:c.594_595delinsGC
ENST00000706954.1:c.760_761delinsGC ENSP00000516674.1:p.Lys254Ala
ENST00000706955.1:c.*795_*796delinsGC ENSP00000516675.1:n.*795_*796delinsGC
ENST00000686459.1:c.*346_*347delinsGC ENSP00000508909.1:n.*346_*347delinsGC
ENST00000688158.1:c.*871_*872delinsGC ENSP00000509254.1:n.*871_*872delinsGC
ENST00000688308.1:c.760_761delinsGC ENSP00000508752.1:p.Lys254Ala
ENST00000688922.1:c.681_682delinsGC
ENST00000693560.1:c.1279_1280delinsGC ENSP00000509861.1:p.Lys427Ala
ENST00000371953.8:c.760_761delinsGC MANE Select ENSP00000361021.3:p.Lys254Ala
ENST00000371953.7:c.760_761delinsGC ENSP00000361021.3:p.Lys254Ala
ENST00000472832.2:c.187_188delinsGC ENSP00000483066.1:p.Lys63Ala
NM_000314.5:c.760_761delinsGC NP_000305.3:p.Lys254Ala
NM_000314.6:c.760_761delinsGC NP_000305.3:p.Lys254Ala
NM_001304717.2:c.1279_1280delinsGC NP_001291646.2:p.Lys427Ala
NM_001304718.1:c.169_170delinsGC NP_001291647.1:p.Lys57Ala
XM_006717926.2:c.715_716delinsGC XP_006717989.1:p.Lys239Ala
XM_011539981.1:c.760_761delinsGC XP_011538283.1:p.Lys254Ala
XM_011539982.1:c.664_665delinsGC XP_011538284.1:p.Lys222Ala
XR_945791.1:n.1330_1331delinsGC
NM_000314.7:c.760_761delinsGC NP_000305.3:p.Lys254Ala
NM_001304717.5:c.1279_1280delinsGC NP_001291646.4:p.Lys427Ala
NM_001304718.2:c.169_170delinsGC NP_001291647.1:p.Lys57Ala
NM_000314.8:c.760_761delinsGC MANE Select NP_000305.3:p.Lys254Ala