Canonical Allele Identifier: CA2580100989

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2111570
• ClinVar RCV Id: RCV003023988

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345193_41345194delinsTC , CM000685.2:g.41345193_41345194delinsTC	GRCh38
NC_000023.10:g.41204446_41204447delinsTC , CM000685.1:g.41204446_41204447delinsTC	GRCh37
NC_000023.9:g.41089390_41089391delinsTC	NCBI36
NG_012830.1:g.16796_16797delinsTC
NG_012830.2:g.16796_16797delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1171_1172delinsTC	ENSP00000496052.2:p.Asp391Ser
ENST00000399959.7:c.1036_1037delinsTC	ENSP00000382840.3:p.Asp346Ser
ENST00000441189.4:c.940_941delinsTC	ENSP00000414281.3:p.Asp314Ser
ENST00000457138.7:c.991_992delinsTC	ENSP00000392494.2:p.Asp331Ser
ENST00000629496.3:c.1039_1040delinsTC	ENSP00000487224.1:p.Asp347Ser
ENST00000642161.1:n.3238_3239delinsTC
ENST00000642322.1:c.481_482delinsTC	ENSP00000496052.1:p.Asp161Ser
ENST00000642424.1:c.481_482delinsTC	ENSP00000496356.1:p.Asp161Ser
ENST00000642589.1:n.4361_4362delinsTC
ENST00000642597.1:n.1213_1214delinsTC
ENST00000642687.1:n.1072_1073delinsTC
ENST00000642722.1:n.1872_1873delinsTC
ENST00000642763.1:n.1930_1931delinsTC
ENST00000642793.1:c.*488_*489delinsTC	ENSP00000493976.1:n.*488_*489delinsTC
ENST00000642801.1:n.688_689delinsTC
ENST00000643820.1:n.315_316delinsTC
ENST00000643963.1:c.*321_*322delinsTC	ENSP00000495264.1:n.*321_*322delinsTC
ENST00000644073.1:c.997_998delinsTC	ENSP00000493475.1:p.Asp333Ser
ENST00000644074.1:c.1036_1037delinsTC	ENSP00000496663.1:p.Asp346Ser
ENST00000644109.1:c.1201_1202delinsTC	ENSP00000494952.1:p.Asp401Ser
ENST00000644307.1:n.1130_1131delinsTC
ENST00000644513.1:c.1039_1040delinsTC	ENSP00000493819.1:p.Asp347Ser
ENST00000644677.1:c.922_923delinsTC	ENSP00000496524.1:p.Asp308Ser
ENST00000644876.2:c.1039_1040delinsTC MANE Select	ENSP00000494040.1:p.Asp347Ser
ENST00000644958.1:n.2700_2701delinsTC
ENST00000645080.1:c.*2261_*2262delinsTC	ENSP00000494767.1:n.*2261_*2262delinsTC
ENST00000645120.1:n.2534_2535delinsTC
ENST00000645338.1:n.1130_1131delinsTC
ENST00000645380.1:n.2424_2425delinsTC
ENST00000645561.1:n.2215_2216delinsTC
ENST00000645574.1:n.3903_3904delinsTC
ENST00000645589.1:c.1039_1040delinsTC	ENSP00000494588.1:p.Asp347Ser
ENST00000646093.1:n.223_224delinsTC
ENST00000646107.1:c.922_923delinsTC	ENSP00000494518.1:p.Asp308Ser
ENST00000646122.1:c.1039_1040delinsTC	ENSP00000496222.1:p.Asp347Ser
ENST00000646196.1:n.2008_2009delinsTC
ENST00000646223.1:c.*1032_*1033delinsTC	ENSP00000496043.1:n.*1032_*1033delinsTC
ENST00000646319.1:c.1039_1040delinsTC	ENSP00000495377.1:p.Asp347Ser
ENST00000646390.1:n.3327_3328delinsTC
ENST00000646627.1:c.481_482delinsTC	ENSP00000493795.1:p.Asp161Ser
ENST00000646679.1:c.481_482delinsTC	ENSP00000494887.1:p.Asp161Ser
ENST00000646822.1:n.2101_2102delinsTC
ENST00000646940.1:n.1213_1214delinsTC
ENST00000647286.1:n.1137_1138delinsTC
ENST00000399959.6:c.1039_1040delinsTC	ENSP00000382840.2:p.Asp347Ser
ENST00000441189.3:c.341-2447_341-2446delinsTC	ENSP00000414281.2:n.341-2447_341-2446delinsTC
ENST00000457138.6:c.991_992delinsTC	ENSP00000392494.2:p.Asp331Ser
ENST00000478993.5:c.1039_1040delinsTC	ENSP00000478443.1:p.Asp347Ser
ENST00000542215.5:n.1087_1088delinsTC
ENST00000625837.2:c.1039_1040delinsTC	ENSP00000486306.1:p.Asp347Ser
ENST00000626301.2:c.1039_1040delinsTC	ENSP00000486443.1:p.Asp347Ser
ENST00000629496.2:c.1039_1040delinsTC	ENSP00000487224.1:p.Asp347Ser
ENST00000629785.2:c.1039_1040delinsTC	ENSP00000486516.1:p.Asp347Ser
ENST00000630255.2:c.1039_1040delinsTC	ENSP00000486720.1:p.Asp347Ser
ENST00000630370.2:c.1039_1040delinsTC	ENSP00000487062.1:p.Asp347Ser
ENST00000630858.2:c.1039_1040delinsTC	ENSP00000486514.1:p.Asp347Ser
NM_001193416.2:c.1039_1040delinsTC	NP_001180345.1:p.Asp347Ser
NM_001193417.2:c.991_992delinsTC	NP_001180346.1:p.Asp331Ser
NM_001356.4:c.1039_1040delinsTC	NP_001347.3:p.Asp347Ser
NR_126093.1:n.1984_1985delinsTC
XM_011543892.1:c.1039_1040delinsTC	XP_011542194.1:p.Asp347Ser
NM_001363819.1:c.481_482delinsTC	NP_001350748.1:p.Asp161Ser
XM_011543892.2:c.1039_1040delinsTC	XP_011542194.1:p.Asp347Ser
XM_017029313.1:c.481_482delinsTC	XP_016884802.1:p.Asp161Ser
NM_001193416.3:c.1039_1040delinsTC	NP_001180345.1:p.Asp347Ser
NM_001193417.3:c.991_992delinsTC	NP_001180346.1:p.Asp331Ser
NM_001356.5:c.1039_1040delinsTC MANE Select	NP_001347.3:p.Asp347Ser