Canonical Allele Identifier: CA891839402
Community Standard Title: NM_000314.8(PTEN):c.656_657delinsCA (p.Gln219Pro)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957874_87957875delinsCA , CM000672.2:g.87957874_87957875delinsCA GRCh38
NC_000010.10:g.89717631_89717632delinsCA , CM000672.1:g.89717631_89717632delinsCA GRCh37
NC_000010.9:g.89707611_89707612delinsCA NCBI36
NG_007466.2:g.99436_99437delinsCA , LRG_311:g.99436_99437delinsCA

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.656_657delinsCA MANE Select NP_000305.3:p.Gln219Pro
ENST00000371953.8:c.656_657delinsCA MANE Select ENSP00000361021.3:p.Gln219Pro
NM_000314.5:c.656_657delinsCA NP_000305.3:p.Gln219Pro
NM_000314.6:c.656_657delinsCA NP_000305.3:p.Gln219Pro
NM_000314.7:c.656_657delinsCA NP_000305.3:p.Gln219Pro
NM_001304717.2:c.1175_1176delinsCA NP_001291646.2:p.Gln392Pro
NM_001304717.5:c.1175_1176delinsCA NP_001291646.4:p.Gln392Pro
NM_001304718.1:c.65_66delinsCA NP_001291647.1:p.Gln22Pro
NM_001304718.2:c.65_66delinsCA NP_001291647.1:p.Gln22Pro
ENST00000371953.7:c.656_657delinsCA ENSP00000361021.3:p.Gln219Pro
ENST00000472832.2:c.83_84delinsCA ENSP00000483066.1:p.Gln28Pro
ENST00000472832.3:c.656_657delinsCA ENSP00000483066.2:p.Gln219Pro
ENST00000686459.1:c.*242_*243delinsCA ENSP00000508909.1:n.*242_*243delinsCA
ENST00000688158.1:c.*767_*768delinsCA ENSP00000509254.1:n.*767_*768delinsCA
ENST00000688158.2:n.1391_1392delinsCA
ENST00000688308.1:c.656_657delinsCA ENSP00000508752.1:p.Gln219Pro
ENST00000688922.1:c.577_578delinsCA
ENST00000688922.2:c.*486_*487delinsCA ENSP00000508742.2:n.*486_*487delinsCA
ENST00000693560.1:c.1175_1176delinsCA ENSP00000509861.1:p.Gln392Pro
ENST00000700021.1:c.611_612delinsCA ENSP00000514757.1:p.Gln204Pro
ENST00000700022.1:c.514_515delinsCA ENSP00000514758.1:p.Ser172His
ENST00000700023.1:n.1814_1815delinsCA
ENST00000700024.1:n.2048_2049delinsCA
ENST00000700025.1:n.1425_1426delinsCA
ENST00000700026.1:n.293_294delinsCA
ENST00000700029.1:c.490_491delinsCA
ENST00000700029.2:c.656_657delinsCA ENSP00000514759.2:p.Gln219Pro
ENST00000706954.1:c.656_657delinsCA ENSP00000516674.1:p.Gln219Pro
ENST00000706955.1:c.*691_*692delinsCA ENSP00000516675.1:n.*691_*692delinsCA
ENST00000710265.1:c.656_657delinsCA ENSP00000518161.1:p.Gln219Pro
XM_006717926.2:c.611_612delinsCA XP_006717989.1:p.Gln204Pro
XM_011539981.1:c.656_657delinsCA XP_011538283.1:p.Gln219Pro
XM_011539982.1:c.560_561delinsCA XP_011538284.1:p.Gln187Pro
XR_945791.1:n.1226_1227delinsCA