Canonical Allele Identifier: CA3275503567
Community Standard Title: NM_000314.8(PTEN):c.370_372delinsAGC (p.Cys124Ser)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933129_87933131delinsAGC , CM000672.2:g.87933129_87933131delinsAGC GRCh38
NC_000010.10:g.89692886_89692888delinsAGC , CM000672.1:g.89692886_89692888delinsAGC GRCh37
NC_000010.9:g.89682866_89682868delinsAGC NCBI36
NG_007466.2:g.74691_74693delinsAGC , LRG_311:g.74691_74693delinsAGC

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.370_372delinsAGC MANE Select NP_000305.3:p.Cys124Ser
ENST00000371953.8:c.370_372delinsAGC MANE Select ENSP00000361021.3:p.Cys124Ser
NM_000314.5:c.370_372delinsAGC NP_000305.3:p.Cys124Ser
NM_000314.6:c.370_372delinsAGC NP_000305.3:p.Cys124Ser
NM_000314.7:c.370_372delinsAGC NP_000305.3:p.Cys124Ser
NM_001304717.2:c.889_891delinsAGC NP_001291646.2:p.Cys297Ser
NM_001304717.5:c.889_891delinsAGC NP_001291646.4:p.Cys297Ser
NM_001304718.1:c.-381_-379delinsAGC NP_001291647.1:n.-381_-379delinsAGC
NM_001304718.2:c.-381_-379delinsAGC NP_001291647.1:n.-381_-379delinsAGC
ENST00000371953.7:c.370_372delinsAGC ENSP00000361021.3:p.Cys124Ser
ENST00000472832.3:c.370_372delinsAGC ENSP00000483066.2:p.Cys124Ser
ENST00000498703.1:n.196_198delinsAGC
ENST00000610634.1:c.268_270delinsAGC ENSP00000477517.1:p.Cys90Ser
ENST00000686459.1:c.370_372delinsAGC ENSP00000508909.1:p.Cys124Ser
ENST00000688158.1:c.*481_*483delinsAGC ENSP00000509254.1:n.*481_*483delinsAGC
ENST00000688158.2:n.1105_1107delinsAGC
ENST00000688308.1:c.370_372delinsAGC ENSP00000508752.1:p.Cys124Ser
ENST00000688922.1:c.291_293delinsAGC
ENST00000688922.2:c.*200_*202delinsAGC ENSP00000508742.2:n.*200_*202delinsAGC
ENST00000693560.1:c.889_891delinsAGC ENSP00000509861.1:p.Cys297Ser
ENST00000700021.1:c.325_327delinsAGC ENSP00000514757.1:p.Cys109Ser
ENST00000700022.1:c.370_372delinsAGC ENSP00000514758.1:p.Cys124Ser
ENST00000700029.1:c.204_206delinsAGC
ENST00000700029.2:c.370_372delinsAGC ENSP00000514759.2:p.Cys124Ser
ENST00000706954.1:c.370_372delinsAGC ENSP00000516674.1:p.Cys124Ser
ENST00000706955.1:c.*405_*407delinsAGC ENSP00000516675.1:n.*405_*407delinsAGC
ENST00000710265.1:c.370_372delinsAGC ENSP00000518161.1:p.Cys124Ser
XM_006717926.2:c.325_327delinsAGC XP_006717989.1:p.Cys109Ser
XM_011539981.1:c.370_372delinsAGC XP_011538283.1:p.Cys124Ser
XM_011539982.1:c.274_276delinsAGC XP_011538284.1:p.Cys92Ser
XR_945789.1:n.1082_1084delinsAGC
XR_945790.1:n.1082_1084delinsAGC
XR_945791.1:n.1082_1084delinsAGC