Canonical Allele Identifier: CA891839399
Community Standard Title: NM_000314.8(PTEN):c.655_657delinsGCT (p.Gln219Ala)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957873_87957875delinsGCT , CM000672.2:g.87957873_87957875delinsGCT GRCh38
NC_000010.10:g.89717630_89717632delinsGCT , CM000672.1:g.89717630_89717632delinsGCT GRCh37
NC_000010.9:g.89707610_89707612delinsGCT NCBI36
NG_007466.2:g.99435_99437delinsGCT , LRG_311:g.99435_99437delinsGCT

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.655_657delinsGCT MANE Select NP_000305.3:p.Gln219Ala
ENST00000371953.8:c.655_657delinsGCT MANE Select ENSP00000361021.3:p.Gln219Ala
NM_000314.5:c.655_657delinsGCT NP_000305.3:p.Gln219Ala
NM_000314.6:c.655_657delinsGCT NP_000305.3:p.Gln219Ala
NM_000314.7:c.655_657delinsGCT NP_000305.3:p.Gln219Ala
NM_001304717.2:c.1174_1176delinsGCT NP_001291646.2:p.Gln392Ala
NM_001304717.5:c.1174_1176delinsGCT NP_001291646.4:p.Gln392Ala
NM_001304718.1:c.64_66delinsGCT NP_001291647.1:p.Gln22Ala
NM_001304718.2:c.64_66delinsGCT NP_001291647.1:p.Gln22Ala
ENST00000371953.7:c.655_657delinsGCT ENSP00000361021.3:p.Gln219Ala
ENST00000472832.2:c.82_84delinsGCT ENSP00000483066.1:p.Gln28Ala
ENST00000472832.3:c.655_657delinsGCT ENSP00000483066.2:p.Gln219Ala
ENST00000686459.1:c.*241_*243delinsGCT ENSP00000508909.1:n.*241_*243delinsGCT
ENST00000688158.1:c.*766_*768delinsGCT ENSP00000509254.1:n.*766_*768delinsGCT
ENST00000688158.2:n.1390_1392delinsGCT
ENST00000688308.1:c.655_657delinsGCT ENSP00000508752.1:p.Gln219Ala
ENST00000688922.1:c.576_578delinsGCT
ENST00000688922.2:c.*485_*487delinsGCT ENSP00000508742.2:n.*485_*487delinsGCT
ENST00000693560.1:c.1174_1176delinsGCT ENSP00000509861.1:p.Gln392Ala
ENST00000700021.1:c.610_612delinsGCT ENSP00000514757.1:p.Gln204Ala
ENST00000700022.1:c.513_515delinsGCT ENSP00000514758.1:p.Ser172Leu
ENST00000700023.1:n.1813_1815delinsGCT
ENST00000700024.1:n.2047_2049delinsGCT
ENST00000700025.1:n.1424_1426delinsGCT
ENST00000700026.1:n.292_294delinsGCT
ENST00000700029.1:c.489_491delinsGCT
ENST00000700029.2:c.655_657delinsGCT ENSP00000514759.2:p.Gln219Ala
ENST00000706954.1:c.655_657delinsGCT ENSP00000516674.1:p.Gln219Ala
ENST00000706955.1:c.*690_*692delinsGCT ENSP00000516675.1:n.*690_*692delinsGCT
ENST00000710265.1:c.655_657delinsGCT ENSP00000518161.1:p.Gln219Ala
XM_006717926.2:c.610_612delinsGCT XP_006717989.1:p.Gln204Ala
XM_011539981.1:c.655_657delinsGCT XP_011538283.1:p.Gln219Ala
XM_011539982.1:c.559_561delinsGCT XP_011538284.1:p.Gln187Ala
XR_945791.1:n.1225_1227delinsGCT