Canonical Allele Identifier: CA16043273
Community Standard Title: NM_001356.5(DDX3X):c.372_373del (p.Asn124LysfsTer5)
Gene: DDX3X HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41342582_41342583del , CM000685.2:g.41342582_41342583del GRCh38
NC_000023.10:g.41201835_41201836del , CM000685.1:g.41201835_41201836del GRCh37
NC_000023.9:g.41086779_41086780del NCBI36
NG_012830.1:g.14185_14186del
NG_012830.2:g.14185_14186del

Transcript Alleles

HGVS Amino-acid Change
NM_001356.5:c.372_373del MANE Select NP_001347.3:p.Asn124LysfsTer5
ENST00000644876.2:c.372_373del MANE Select ENSP00000494040.1:p.Asn124LysfsTer5
NM_001193416.2:c.372_373del NP_001180345.1:p.Asn124LysfsTer5
NM_001193416.3:c.372_373del NP_001180345.1:p.Asn124LysfsTer5
NM_001193417.2:c.324_325del NP_001180346.1:p.Asn108LysfsTer5
NM_001193417.3:c.324_325del NP_001180346.1:p.Asn108LysfsTer5
NM_001356.4:c.372_373del NP_001347.3:p.Asn124LysfsTer5
NM_001363819.1:c.-187_-186del NP_001350748.1:n.-187_-186del
NR_126093.1:n.1317_1318del
ENST00000399959.6:c.372_373del ENSP00000382840.2:p.Asn124LysfsTer5
ENST00000399959.7:c.369_370del ENSP00000382840.3:p.Asn123LysfsTer5
ENST00000441189.3:c.340+32_340+33del ENSP00000414281.2:n.340+32_340+33del
ENST00000441189.4:c.372_373del ENSP00000414281.3:p.Asn124LysfsTer5
ENST00000457138.6:c.324_325del ENSP00000392494.2:p.Asn108LysfsTer5
ENST00000457138.7:c.324_325del ENSP00000392494.2:p.Asn108LysfsTer5
ENST00000478993.5:c.372_373del ENSP00000478443.1:p.Asn124LysfsTer5
ENST00000542215.5:n.506_507del
ENST00000622198.5:n.529_530del
ENST00000625837.2:c.372_373del ENSP00000486306.1:p.Asn124LysfsTer5
ENST00000626301.2:c.372_373del ENSP00000486443.1:p.Asn124LysfsTer5
ENST00000629496.2:c.372_373del ENSP00000487224.1:p.Asn124LysfsTer5
ENST00000629496.3:c.372_373del ENSP00000487224.1:p.Asn124LysfsTer5
ENST00000629785.2:c.372_373del ENSP00000486516.1:p.Asn124LysfsTer5
ENST00000630255.2:c.372_373del ENSP00000486720.1:p.Asn124LysfsTer5
ENST00000630370.2:c.372_373del ENSP00000487062.1:p.Asn124LysfsTer5
ENST00000630858.2:c.372_373del ENSP00000486514.1:p.Asn124LysfsTer5
ENST00000631641.1:c.324_325del ENSP00000488854.1:p.Asn108LysfsTer5
ENST00000631641.2:n.415_416del
ENST00000642161.1:n.2571_2572del
ENST00000642322.1:c.-187_-186del ENSP00000496052.1:n.-187_-186del
ENST00000642322.2:c.504_505del ENSP00000496052.2:p.Asn168LysfsTer5
ENST00000642424.1:c.-187_-186del ENSP00000496356.1:n.-187_-186del
ENST00000642589.1:n.2640_2641del
ENST00000642597.1:n.463_464del
ENST00000642624.1:n.262_263del
ENST00000642722.1:n.1341_1342del
ENST00000642763.1:n.1263_1264del
ENST00000642793.1:c.372_373del ENSP00000493976.1:p.Asn124LysfsTer5
ENST00000643963.1:c.372_373del ENSP00000495264.1:p.Asn124LysfsTer5
ENST00000644073.1:c.330_331del ENSP00000493475.1:p.Asn110LysfsTer5
ENST00000644074.1:c.369_370del ENSP00000496663.1:p.Asn123LysfsTer5
ENST00000644109.1:c.369_370del ENSP00000494952.1:p.Asn123LysfsTer5
ENST00000644260.1:n.200_201del
ENST00000644307.1:n.463_464del
ENST00000644513.1:c.372_373del ENSP00000493819.1:p.Asn124LysfsTer5
ENST00000644677.1:c.255_256del ENSP00000496524.1:p.Asn85LysfsTer5
ENST00000644958.1:n.2033_2034del
ENST00000645080.1:c.*1594_*1595del ENSP00000494767.1:n.*1594_*1595del
ENST00000645120.1:n.1867_1868del
ENST00000645253.1:n.1795_1796del
ENST00000645338.1:n.463_464del
ENST00000645380.1:n.1757_1758del
ENST00000645561.1:n.1341_1342del
ENST00000645574.1:n.2561_2562del
ENST00000645589.1:c.372_373del ENSP00000494588.1:p.Asn124LysfsTer5
ENST00000646107.1:c.255_256del ENSP00000494518.1:p.Asn85LysfsTer5
ENST00000646122.1:c.372_373del ENSP00000496222.1:p.Asn124LysfsTer5
ENST00000646196.1:n.1341_1342del
ENST00000646223.1:c.*365_*366del ENSP00000496043.1:n.*365_*366del
ENST00000646319.1:c.372_373del ENSP00000495377.1:p.Asn124LysfsTer5
ENST00000646390.1:n.2577_2578del
ENST00000646627.1:c.-187_-186del ENSP00000493795.1:n.-187_-186del
ENST00000646679.1:c.-187_-186del ENSP00000494887.1:n.-187_-186del
ENST00000646822.1:n.463_464del
ENST00000646940.1:n.463_464del
ENST00000647286.1:n.263_264del
XM_011543892.1:c.372_373del XP_011542194.1:p.Asn124LysfsTer5
XM_011543892.2:c.372_373del XP_011542194.1:p.Asn124LysfsTer5
XM_017029313.1:c.-187_-186del XP_016884802.1:n.-187_-186del