Canonical Allele Identifier: CA1926188621
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958012_87958013delinsTA , CM000672.2:g.87958012_87958013delinsTA GRCh38
NC_000010.10:g.89717769_89717770delinsTA , CM000672.1:g.89717769_89717770delinsTA GRCh37
NC_000010.9:g.89707749_89707750delinsTA NCBI36
NG_007466.2:g.99574_99575delinsTA , LRG_311:g.99574_99575delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.794_795delinsTA ENSP00000514759.2:p.Leu265=
ENST00000710265.1:c.794_795delinsTA ENSP00000518161.1:p.Leu265=
ENST00000472832.3:c.794_795delinsTA ENSP00000483066.2:p.Leu265=
ENST00000688158.2:n.1529_1530delinsTA
ENST00000688922.2:c.*624_*625delinsTA ENSP00000508742.2:n.*624_*625delinsTA
ENST00000700021.1:c.749_750delinsTA ENSP00000514757.1:p.Leu250=
ENST00000700022.1:c.*133_*134delinsTA ENSP00000514758.1:n.*133_*134delinsTA
ENST00000700023.1:n.1952_1953delinsTA
ENST00000700024.1:n.2186_2187delinsTA
ENST00000700025.1:n.1563_1564delinsTA
ENST00000700026.1:n.431_432delinsTA
ENST00000700029.1:c.628_629delinsTA
ENST00000706954.1:c.794_795delinsTA ENSP00000516674.1:p.Leu265=
ENST00000706955.1:c.*829_*830delinsTA ENSP00000516675.1:n.*829_*830delinsTA
ENST00000686459.1:c.*380_*381delinsTA ENSP00000508909.1:n.*380_*381delinsTA
ENST00000688158.1:c.*905_*906delinsTA ENSP00000509254.1:n.*905_*906delinsTA
ENST00000688308.1:c.794_795delinsTA ENSP00000508752.1:p.Leu265=
ENST00000688922.1:c.715_716delinsTA
ENST00000693560.1:c.1313_1314delinsTA ENSP00000509861.1:p.Leu438=
ENST00000371953.8:c.794_795delinsTA MANE Select ENSP00000361021.3:p.Leu265=
ENST00000371953.7:c.794_795delinsTA ENSP00000361021.3:p.Leu265=
ENST00000472832.2:c.221_222delinsTA ENSP00000483066.1:p.Leu74=
NM_000314.5:c.794_795delinsTA NP_000305.3:p.Leu265=
NM_000314.6:c.794_795delinsTA NP_000305.3:p.Leu265=
NM_001304717.2:c.1313_1314delinsTA NP_001291646.2:p.Leu438=
NM_001304718.1:c.203_204delinsTA NP_001291647.1:p.Leu68=
XM_006717926.2:c.749_750delinsTA XP_006717989.1:p.Leu250=
XM_011539981.1:c.794_795delinsTA XP_011538283.1:p.Leu265=
XM_011539982.1:c.698_699delinsTA XP_011538284.1:p.Leu233=
XR_945791.1:n.1364_1365delinsTA
NM_000314.7:c.794_795delinsTA NP_000305.3:p.Leu265=
NM_001304717.5:c.1313_1314delinsTA NP_001291646.4:p.Leu438=
NM_001304718.2:c.203_204delinsTA NP_001291647.1:p.Leu68=
NM_000314.8:c.794_795delinsTA MANE Select NP_000305.3:p.Leu265=