Canonical Allele Identifier: CA2580100990

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2032503
• ClinVar RCV Id: RCV002877040

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345280_41345281insT , CM000685.2:g.41345280_41345281insT	GRCh38
NC_000023.10:g.41204533_41204534insT , CM000685.1:g.41204533_41204534insT	GRCh37
NC_000023.9:g.41089477_41089478insT	NCBI36
NG_012830.1:g.16883_16884insT
NG_012830.2:g.16883_16884insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1258_1259insT	ENSP00000496052.2:p.Arg420LeufsTer7
ENST00000399959.7:c.1123_1124insT	ENSP00000382840.3:p.Arg375LeufsTer7
ENST00000441189.4:c.1027_1028insT	ENSP00000414281.3:p.Arg343LeufsTer7
ENST00000457138.7:c.1078_1079insT	ENSP00000392494.2:p.Arg360LeufsTer7
ENST00000629496.3:c.1126_1127insT	ENSP00000487224.1:p.Arg376LeufsTer7
ENST00000642161.1:n.3325_3326insT
ENST00000642322.1:c.568_569insT	ENSP00000496052.1:p.Arg190LeufsTer7
ENST00000642424.1:c.568_569insT	ENSP00000496356.1:p.Arg190LeufsTer7
ENST00000642589.1:n.4448_4449insT
ENST00000642597.1:n.1300_1301insT
ENST00000642687.1:n.1159_1160insT
ENST00000642722.1:n.1959_1960insT
ENST00000642763.1:n.2017_2018insT
ENST00000642793.1:c.*575_*576insT	ENSP00000493976.1:n.*575_*576insT
ENST00000642801.1:n.775_776insT
ENST00000643820.1:n.402_403insT
ENST00000643963.1:c.*408_*409insT	ENSP00000495264.1:n.*408_*409insT
ENST00000644073.1:c.1084_1085insT	ENSP00000493475.1:p.Arg362LeufsTer7
ENST00000644074.1:c.1123_1124insT	ENSP00000496663.1:p.Arg375LeufsTer7
ENST00000644109.1:c.1288_1289insT	ENSP00000494952.1:p.Arg430LeufsTer7
ENST00000644307.1:n.1217_1218insT
ENST00000644513.1:c.1126_1127insT	ENSP00000493819.1:p.Arg376LeufsTer7
ENST00000644677.1:c.1009_1010insT	ENSP00000496524.1:p.Arg337LeufsTer7
ENST00000644876.2:c.1126_1127insT MANE Select	ENSP00000494040.1:p.Arg376LeufsTer7
ENST00000644958.1:n.2787_2788insT
ENST00000645080.1:c.*2348_*2349insT	ENSP00000494767.1:n.*2348_*2349insT
ENST00000645120.1:n.2621_2622insT
ENST00000645338.1:n.1217_1218insT
ENST00000645380.1:n.2511_2512insT
ENST00000645561.1:n.2302_2303insT
ENST00000645574.1:n.3990_3991insT
ENST00000645589.1:c.1126_1127insT	ENSP00000494588.1:p.Arg376LeufsTer7
ENST00000646093.1:n.310_311insT
ENST00000646107.1:c.1009_1010insT	ENSP00000494518.1:p.Arg337LeufsTer7
ENST00000646122.1:c.1126_1127insT	ENSP00000496222.1:p.Arg376LeufsTer7
ENST00000646196.1:n.2095_2096insT
ENST00000646223.1:c.*1119_*1120insT	ENSP00000496043.1:n.*1119_*1120insT
ENST00000646319.1:c.1126_1127insT	ENSP00000495377.1:p.Arg376LeufsTer7
ENST00000646390.1:n.3414_3415insT
ENST00000646627.1:c.568_569insT	ENSP00000493795.1:p.Arg190LeufsTer7
ENST00000646679.1:c.568_569insT	ENSP00000494887.1:p.Arg190LeufsTer7
ENST00000646822.1:n.2188_2189insT
ENST00000646940.1:n.1300_1301insT
ENST00000647286.1:n.1224_1225insT
ENST00000399959.6:c.1126_1127insT	ENSP00000382840.2:p.Arg376LeufsTer7
ENST00000441189.3:c.341-2360_341-2359insT	ENSP00000414281.2:n.341-2360_341-2359insT
ENST00000457138.6:c.1078_1079insT	ENSP00000392494.2:p.Arg360LeufsTer7
ENST00000478993.5:c.1126_1127insT	ENSP00000478443.1:p.Arg376LeufsTer7
ENST00000542215.5:n.1174_1175insT
ENST00000625837.2:c.1126_1127insT	ENSP00000486306.1:p.Arg376LeufsTer7
ENST00000626301.2:c.1126_1127insT	ENSP00000486443.1:p.Arg376LeufsTer7
ENST00000629496.2:c.1126_1127insT	ENSP00000487224.1:p.Arg376LeufsTer7
ENST00000629785.2:c.1126_1127insT	ENSP00000486516.1:p.Arg376LeufsTer7
ENST00000630255.2:c.1126_1127insT	ENSP00000486720.1:p.Arg376LeufsTer7
ENST00000630370.2:c.1126_1127insT	ENSP00000487062.1:p.Arg376LeufsTer7
ENST00000630858.2:c.1126_1127insT	ENSP00000486514.1:p.Arg376LeufsTer7
NM_001193416.2:c.1126_1127insT	NP_001180345.1:p.Arg376LeufsTer7
NM_001193417.2:c.1078_1079insT	NP_001180346.1:p.Arg360LeufsTer7
NM_001356.4:c.1126_1127insT	NP_001347.3:p.Arg376LeufsTer7
NR_126093.1:n.2071_2072insT
XM_011543892.1:c.1126_1127insT	XP_011542194.1:p.Arg376LeufsTer7
NM_001363819.1:c.568_569insT	NP_001350748.1:p.Arg190LeufsTer7
XM_011543892.2:c.1126_1127insT	XP_011542194.1:p.Arg376LeufsTer7
XM_017029313.1:c.568_569insT	XP_016884802.1:p.Arg190LeufsTer7
NM_001193416.3:c.1126_1127insT	NP_001180345.1:p.Arg376LeufsTer7
NM_001193417.3:c.1078_1079insT	NP_001180346.1:p.Arg360LeufsTer7
NM_001356.5:c.1126_1127insT MANE Select	NP_001347.3:p.Arg376LeufsTer7