Canonical Allele Identifier: CA891837375
Community Standard Title: NM_000314.8(PTEN):c.364_365delinsTC (p.Ile122Ser)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933123_87933124delinsTC , CM000672.2:g.87933123_87933124delinsTC GRCh38
NC_000010.10:g.89692880_89692881delinsTC , CM000672.1:g.89692880_89692881delinsTC GRCh37
NC_000010.9:g.89682860_89682861delinsTC NCBI36
NG_007466.2:g.74685_74686delinsTC , LRG_311:g.74685_74686delinsTC

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.364_365delinsTC MANE Select NP_000305.3:p.Ile122Ser
ENST00000371953.8:c.364_365delinsTC MANE Select ENSP00000361021.3:p.Ile122Ser
NM_000314.5:c.364_365delinsTC NP_000305.3:p.Ile122Ser
NM_000314.6:c.364_365delinsTC NP_000305.3:p.Ile122Ser
NM_000314.7:c.364_365delinsTC NP_000305.3:p.Ile122Ser
NM_001304717.2:c.883_884delinsTC NP_001291646.2:p.Ile295Ser
NM_001304717.5:c.883_884delinsTC NP_001291646.4:p.Ile295Ser
NM_001304718.1:c.-387_-386delinsTC NP_001291647.1:n.-387_-386delinsTC
NM_001304718.2:c.-387_-386delinsTC NP_001291647.1:n.-387_-386delinsTC
ENST00000371953.7:c.364_365delinsTC ENSP00000361021.3:p.Ile122Ser
ENST00000472832.3:c.364_365delinsTC ENSP00000483066.2:p.Ile122Ser
ENST00000498703.1:n.190_191delinsTC
ENST00000610634.1:c.262_263delinsTC ENSP00000477517.1:p.Ile88Ser
ENST00000686459.1:c.364_365delinsTC ENSP00000508909.1:p.Ile122Ser
ENST00000688158.1:c.*475_*476delinsTC ENSP00000509254.1:n.*475_*476delinsTC
ENST00000688158.2:n.1099_1100delinsTC
ENST00000688308.1:c.364_365delinsTC ENSP00000508752.1:p.Ile122Ser
ENST00000688922.1:c.285_286delinsTC
ENST00000688922.2:c.*194_*195delinsTC ENSP00000508742.2:n.*194_*195delinsTC
ENST00000693560.1:c.883_884delinsTC ENSP00000509861.1:p.Ile295Ser
ENST00000700021.1:c.319_320delinsTC ENSP00000514757.1:p.Ile107Ser
ENST00000700022.1:c.364_365delinsTC ENSP00000514758.1:p.Ile122Ser
ENST00000700029.1:c.198_199delinsTC
ENST00000700029.2:c.364_365delinsTC ENSP00000514759.2:p.Ile122Ser
ENST00000706954.1:c.364_365delinsTC ENSP00000516674.1:p.Ile122Ser
ENST00000706955.1:c.*399_*400delinsTC ENSP00000516675.1:n.*399_*400delinsTC
ENST00000710265.1:c.364_365delinsTC ENSP00000518161.1:p.Ile122Ser
XM_006717926.2:c.319_320delinsTC XP_006717989.1:p.Ile107Ser
XM_011539981.1:c.364_365delinsTC XP_011538283.1:p.Ile122Ser
XM_011539982.1:c.268_269delinsTC XP_011538284.1:p.Ile90Ser
XR_945789.1:n.1076_1077delinsTC
XR_945790.1:n.1076_1077delinsTC
XR_945791.1:n.1076_1077delinsTC