Canonical Allele Identifier: CA16621387
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 423331
ClinVar RCV Id: RCV000477995
dbSNP Id: rs1064796364

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41345489del , CM000685.2:g.41345489del GRCh38
NC_000023.10:g.41204742del , CM000685.1:g.41204742del GRCh37
NC_000023.9:g.41089686del NCBI36
NG_012830.1:g.17092del
NG_012830.2:g.17092del

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1388del ENSP00000496052.2:p.Val463GlufsTer17
ENST00000399959.7:c.1253del ENSP00000382840.3:p.Val418GlufsTer17
ENST00000441189.4:c.1157del ENSP00000414281.3:p.Val386GlufsTer17
ENST00000457138.7:c.1208del ENSP00000392494.2:p.Val403GlufsTer17
ENST00000616050.3:c.4del
ENST00000629496.3:c.1256del ENSP00000487224.1:p.Val419GlufsTer17
ENST00000642161.1:n.3455del
ENST00000642322.1:c.698del ENSP00000496052.1:p.Val233GlufsTer17
ENST00000642424.1:c.698del ENSP00000496356.1:p.Val233GlufsTer17
ENST00000642589.1:n.4578del
ENST00000642597.1:n.1430del
ENST00000642687.1:n.1289del
ENST00000642722.1:n.2089del
ENST00000642763.1:n.2147del
ENST00000642793.1:c.*705del ENSP00000493976.1:n.*705del
ENST00000642801.1:n.905del
ENST00000643820.1:n.532del
ENST00000643963.1:c.*538del ENSP00000495264.1:n.*538del
ENST00000644073.1:c.1214del ENSP00000493475.1:p.Val405GlufsTer17
ENST00000644074.1:c.1253del ENSP00000496663.1:p.Val418GlufsTer17
ENST00000644109.1:c.1418del ENSP00000494952.1:p.Val473GlufsTer17
ENST00000644307.1:n.1426del
ENST00000644513.1:c.1256del ENSP00000493819.1:p.Val419GlufsTer17
ENST00000644677.1:c.1139del ENSP00000496524.1:p.Val380GlufsTer17
ENST00000644876.2:c.1256del MANE Select ENSP00000494040.1:p.Val419GlufsTer17
ENST00000644958.1:n.2917del
ENST00000645080.1:c.*2478del ENSP00000494767.1:n.*2478del
ENST00000645120.1:n.2751del
ENST00000645338.1:n.1426del
ENST00000645380.1:n.2720del
ENST00000645561.1:n.2432del
ENST00000645574.1:n.4120del
ENST00000645589.1:c.1256del ENSP00000494588.1:p.Val419GlufsTer17
ENST00000646093.1:n.440del
ENST00000646107.1:c.1139del ENSP00000494518.1:p.Val380GlufsTer17
ENST00000646122.1:c.1256del ENSP00000496222.1:p.Val419GlufsTer17
ENST00000646196.1:n.2225del
ENST00000646223.1:c.*1249del ENSP00000496043.1:n.*1249del
ENST00000646319.1:c.1256del ENSP00000495377.1:p.Val419GlufsTer17
ENST00000646390.1:n.3544del
ENST00000646627.1:c.698del ENSP00000493795.1:p.Val233GlufsTer17
ENST00000646679.1:c.698del ENSP00000494887.1:p.Val233GlufsTer17
ENST00000646822.1:n.2318del
ENST00000646940.1:n.1430del
ENST00000647286.1:n.1354del
ENST00000399959.6:c.1256del ENSP00000382840.2:p.Val419GlufsTer17
ENST00000441189.3:c.341-2151del ENSP00000414281.2:n.341-2151del
ENST00000457138.6:c.1208del ENSP00000392494.2:p.Val403GlufsTer17
ENST00000478993.5:c.1256del ENSP00000478443.1:p.Val419GlufsTer17
ENST00000542215.5:n.1304del
ENST00000625837.2:c.1256del ENSP00000486306.1:p.Val419GlufsTer17
ENST00000626301.2:c.1256del ENSP00000486443.1:p.Val419GlufsTer17
ENST00000629496.2:c.1256del ENSP00000487224.1:p.Val419GlufsTer17
ENST00000629785.2:c.1256del ENSP00000486516.1:p.Val419GlufsTer17
ENST00000630255.2:c.1256del ENSP00000486720.1:p.Val419GlufsTer17
ENST00000630370.2:c.1256del ENSP00000487062.1:p.Val419GlufsTer17
ENST00000630858.2:c.1256del ENSP00000486514.1:p.Val419GlufsTer17
NM_001193416.2:c.1256del NP_001180345.1:p.Val419GlufsTer17
NM_001193417.2:c.1208del NP_001180346.1:p.Val403GlufsTer17
NM_001356.4:c.1256del NP_001347.3:p.Val419GlufsTer17
NR_126093.1:n.2201del
XM_011543892.1:c.1256del XP_011542194.1:p.Val419GlufsTer17
NM_001363819.1:c.698del NP_001350748.1:p.Val233GlufsTer17
XM_011543892.2:c.1256del XP_011542194.1:p.Val419GlufsTer17
XM_017029313.1:c.698del XP_016884802.1:p.Val233GlufsTer17
NM_001193416.3:c.1256del NP_001180345.1:p.Val419GlufsTer17
NM_001193417.3:c.1208del NP_001180346.1:p.Val403GlufsTer17
NM_001356.5:c.1256del MANE Select NP_001347.3:p.Val419GlufsTer17