Canonical Allele Identifier: CA891840419
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957870_87957871delinsGC , CM000672.2:g.87957870_87957871delinsGC GRCh38
NC_000010.10:g.89717627_89717628delinsGC , CM000672.1:g.89717627_89717628delinsGC GRCh37
NC_000010.9:g.89707607_89707608delinsGC NCBI36
NG_007466.2:g.99432_99433delinsGC , LRG_311:g.99432_99433delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.652_653delinsGC ENSP00000514759.2:p.Cys218Ala
ENST00000710265.1:c.652_653delinsGC ENSP00000518161.1:p.Cys218Ala
ENST00000472832.3:c.652_653delinsGC ENSP00000483066.2:p.Cys218Ala
ENST00000688158.2:n.1387_1388delinsGC
ENST00000688922.2:c.*482_*483delinsGC ENSP00000508742.2:n.*482_*483delinsGC
ENST00000700021.1:c.607_608delinsGC ENSP00000514757.1:p.Cys203Ala
ENST00000700022.1:c.510_511delinsGC ENSP00000514758.1:p.Ala171Pro
ENST00000700023.1:n.1810_1811delinsGC
ENST00000700024.1:n.2044_2045delinsGC
ENST00000700025.1:n.1421_1422delinsGC
ENST00000700026.1:n.289_290delinsGC
ENST00000700029.1:c.486_487delinsGC
ENST00000706954.1:c.652_653delinsGC ENSP00000516674.1:p.Cys218Ala
ENST00000706955.1:c.*687_*688delinsGC ENSP00000516675.1:n.*687_*688delinsGC
ENST00000686459.1:c.*238_*239delinsGC ENSP00000508909.1:n.*238_*239delinsGC
ENST00000688158.1:c.*763_*764delinsGC ENSP00000509254.1:n.*763_*764delinsGC
ENST00000688308.1:c.652_653delinsGC ENSP00000508752.1:p.Cys218Ala
ENST00000688922.1:c.573_574delinsGC
ENST00000693560.1:c.1171_1172delinsGC ENSP00000509861.1:p.Cys391Ala
ENST00000371953.8:c.652_653delinsGC MANE Select ENSP00000361021.3:p.Cys218Ala
ENST00000371953.7:c.652_653delinsGC ENSP00000361021.3:p.Cys218Ala
ENST00000472832.2:c.79_80delinsGC ENSP00000483066.1:p.Cys27Ala
NM_000314.5:c.652_653delinsGC NP_000305.3:p.Cys218Ala
NM_000314.6:c.652_653delinsGC NP_000305.3:p.Cys218Ala
NM_001304717.2:c.1171_1172delinsGC NP_001291646.2:p.Cys391Ala
NM_001304718.1:c.61_62delinsGC NP_001291647.1:p.Cys21Ala
XM_006717926.2:c.607_608delinsGC XP_006717989.1:p.Cys203Ala
XM_011539981.1:c.652_653delinsGC XP_011538283.1:p.Cys218Ala
XM_011539982.1:c.556_557delinsGC XP_011538284.1:p.Cys186Ala
XR_945791.1:n.1222_1223delinsGC
NM_000314.7:c.652_653delinsGC NP_000305.3:p.Cys218Ala
NM_001304717.5:c.1171_1172delinsGC NP_001291646.4:p.Cys391Ala
NM_001304718.2:c.61_62delinsGC NP_001291647.1:p.Cys21Ala
NM_000314.8:c.652_653delinsGC MANE Select NP_000305.3:p.Cys218Ala