Canonical Allele Identifier: CA891841274
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952136_87952137delinsGC , CM000672.2:g.87952136_87952137delinsGC GRCh38
NC_000010.10:g.89711893_89711894delinsGC , CM000672.1:g.89711893_89711894delinsGC GRCh37
NC_000010.9:g.89701873_89701874delinsGC NCBI36
NG_007466.2:g.93698_93699delinsGC , LRG_311:g.93698_93699delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.511_512delinsGC ENSP00000514759.2:p.Gln171Ala
ENST00000710265.1:c.511_512delinsGC ENSP00000518161.1:p.Gln171Ala
ENST00000472832.3:c.511_512delinsGC ENSP00000483066.2:p.Gln171Ala
ENST00000688158.2:n.1246_1247delinsGC
ENST00000688922.2:c.*341_*342delinsGC ENSP00000508742.2:n.*341_*342delinsGC
ENST00000700021.1:c.466_467delinsGC ENSP00000514757.1:p.Gln156Ala
ENST00000700022.1:c.493-5717_493-5716delinsGC ENSP00000514758.1:n.493-5717_493-5716delinsGC
ENST00000700023.1:n.1669_1670delinsGC
ENST00000700024.1:n.1903_1904delinsGC
ENST00000700025.1:n.1280_1281delinsGC
ENST00000700029.1:c.345_346delinsGC
ENST00000706954.1:c.511_512delinsGC ENSP00000516674.1:p.Gln171Ala
ENST00000706955.1:c.*546_*547delinsGC ENSP00000516675.1:n.*546_*547delinsGC
ENST00000686459.1:c.*97_*98delinsGC ENSP00000508909.1:n.*97_*98delinsGC
ENST00000688158.1:c.*622_*623delinsGC ENSP00000509254.1:n.*622_*623delinsGC
ENST00000688308.1:c.511_512delinsGC ENSP00000508752.1:p.Gln171Ala
ENST00000688922.1:c.432_433delinsGC
ENST00000693560.1:c.1030_1031delinsGC ENSP00000509861.1:p.Gln344Ala
ENST00000371953.8:c.511_512delinsGC MANE Select ENSP00000361021.3:p.Gln171Ala
ENST00000371953.7:c.511_512delinsGC ENSP00000361021.3:p.Gln171Ala
NM_000314.5:c.511_512delinsGC NP_000305.3:p.Gln171Ala
NM_000314.6:c.511_512delinsGC NP_000305.3:p.Gln171Ala
NM_001304717.2:c.1030_1031delinsGC NP_001291646.2:p.Gln344Ala
NM_001304718.1:c.-81_-80delinsGC NP_001291647.1:n.-81_-80delinsGC
XM_006717926.2:c.466_467delinsGC XP_006717989.1:p.Gln156Ala
XM_011539981.1:c.511_512delinsGC XP_011538283.1:p.Gln171Ala
XM_011539982.1:c.415_416delinsGC XP_011538284.1:p.Gln139Ala
XR_945789.1:n.1382_1383delinsGC
XR_945790.1:n.1499_1500delinsGC
XR_945791.1:n.1205-5717_1205-5716delinsGC
NM_000314.7:c.511_512delinsGC NP_000305.3:p.Gln171Ala
NM_001304717.5:c.1030_1031delinsGC NP_001291646.4:p.Gln344Ala
NM_001304718.2:c.-81_-80delinsGC NP_001291647.1:n.-81_-80delinsGC
NM_000314.8:c.511_512delinsGC MANE Select NP_000305.3:p.Gln171Ala