Canonical Allele Identifier: CA3275503677
Community Standard Title: NM_000314.8(PTEN):c.371_372delinsCA (p.Cys124Ser)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933130_87933131delinsCA , CM000672.2:g.87933130_87933131delinsCA GRCh38
NC_000010.10:g.89692887_89692888delinsCA , CM000672.1:g.89692887_89692888delinsCA GRCh37
NC_000010.9:g.89682867_89682868delinsCA NCBI36
NG_007466.2:g.74692_74693delinsCA , LRG_311:g.74692_74693delinsCA

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.371_372delinsCA MANE Select NP_000305.3:p.Cys124Ser
ENST00000371953.8:c.371_372delinsCA MANE Select ENSP00000361021.3:p.Cys124Ser
NM_000314.5:c.371_372delinsCA NP_000305.3:p.Cys124Ser
NM_000314.6:c.371_372delinsCA NP_000305.3:p.Cys124Ser
NM_000314.7:c.371_372delinsCA NP_000305.3:p.Cys124Ser
NM_001304717.2:c.890_891delinsCA NP_001291646.2:p.Cys297Ser
NM_001304717.5:c.890_891delinsCA NP_001291646.4:p.Cys297Ser
NM_001304718.1:c.-380_-379delinsCA NP_001291647.1:n.-380_-379delinsCA
NM_001304718.2:c.-380_-379delinsCA NP_001291647.1:n.-380_-379delinsCA
ENST00000371953.7:c.371_372delinsCA ENSP00000361021.3:p.Cys124Ser
ENST00000472832.3:c.371_372delinsCA ENSP00000483066.2:p.Cys124Ser
ENST00000498703.1:n.197_198delinsCA
ENST00000610634.1:c.269_270delinsCA ENSP00000477517.1:p.Cys90Ser
ENST00000686459.1:c.371_372delinsCA ENSP00000508909.1:p.Cys124Ser
ENST00000688158.1:c.*482_*483delinsCA ENSP00000509254.1:n.*482_*483delinsCA
ENST00000688158.2:n.1106_1107delinsCA
ENST00000688308.1:c.371_372delinsCA ENSP00000508752.1:p.Cys124Ser
ENST00000688922.1:c.292_293delinsCA
ENST00000688922.2:c.*201_*202delinsCA ENSP00000508742.2:n.*201_*202delinsCA
ENST00000693560.1:c.890_891delinsCA ENSP00000509861.1:p.Cys297Ser
ENST00000700021.1:c.326_327delinsCA ENSP00000514757.1:p.Cys109Ser
ENST00000700022.1:c.371_372delinsCA ENSP00000514758.1:p.Cys124Ser
ENST00000700029.1:c.205_206delinsCA
ENST00000700029.2:c.371_372delinsCA ENSP00000514759.2:p.Cys124Ser
ENST00000706954.1:c.371_372delinsCA ENSP00000516674.1:p.Cys124Ser
ENST00000706955.1:c.*406_*407delinsCA ENSP00000516675.1:n.*406_*407delinsCA
ENST00000710265.1:c.371_372delinsCA ENSP00000518161.1:p.Cys124Ser
XM_006717926.2:c.326_327delinsCA XP_006717989.1:p.Cys109Ser
XM_011539981.1:c.371_372delinsCA XP_011538283.1:p.Cys124Ser
XM_011539982.1:c.275_276delinsCA XP_011538284.1:p.Cys92Ser
XR_945789.1:n.1083_1084delinsCA
XR_945790.1:n.1083_1084delinsCA
XR_945791.1:n.1083_1084delinsCA