Canonical Allele Identifier: CA1139667461

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 981253
• ClinVar RCV Id: RCV001260603
• dbSNP Id: rs2063910640

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345428_41345432dup , CM000685.2:g.41345428_41345432dup	GRCh38
NC_000023.10:g.41204681_41204685dup , CM000685.1:g.41204681_41204685dup	GRCh37
NC_000023.9:g.41089625_41089629dup	NCBI36
NG_012830.1:g.17031_17035dup
NG_012830.2:g.17031_17035dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1327_1331dup	ENSP00000496052.2:p.Tyr444Ter
ENST00000399959.7:c.1192_1196dup	ENSP00000382840.3:p.Tyr399Ter
ENST00000441189.4:c.1096_1100dup	ENSP00000414281.3:p.Tyr367Ter
ENST00000457138.7:c.1147_1151dup	ENSP00000392494.2:p.Tyr384Ter
ENST00000629496.3:c.1195_1199dup	ENSP00000487224.1:p.Tyr400Ter
ENST00000642161.1:n.3394_3398dup
ENST00000642322.1:c.637_641dup	ENSP00000496052.1:p.Tyr214Ter
ENST00000642424.1:c.637_641dup	ENSP00000496356.1:p.Tyr214Ter
ENST00000642589.1:n.4517_4521dup
ENST00000642597.1:n.1369_1373dup
ENST00000642687.1:n.1228_1232dup
ENST00000642722.1:n.2028_2032dup
ENST00000642763.1:n.2086_2090dup
ENST00000642793.1:c.*644_*648dup	ENSP00000493976.1:n.*644_*648dup
ENST00000642801.1:n.844_848dup
ENST00000643820.1:n.471_475dup
ENST00000643963.1:c.*477_*481dup	ENSP00000495264.1:n.*477_*481dup
ENST00000644073.1:c.1153_1157dup	ENSP00000493475.1:p.Tyr386Ter
ENST00000644074.1:c.1192_1196dup	ENSP00000496663.1:p.Tyr399Ter
ENST00000644109.1:c.1357_1361dup	ENSP00000494952.1:p.Tyr454Ter
ENST00000644307.1:n.1365_1369dup
ENST00000644513.1:c.1195_1199dup	ENSP00000493819.1:p.Tyr400Ter
ENST00000644677.1:c.1078_1082dup	ENSP00000496524.1:p.Tyr361Ter
ENST00000644876.2:c.1195_1199dup MANE Select	ENSP00000494040.1:p.Tyr400Ter
ENST00000644958.1:n.2856_2860dup
ENST00000645080.1:c.*2417_*2421dup	ENSP00000494767.1:n.*2417_*2421dup
ENST00000645120.1:n.2690_2694dup
ENST00000645338.1:n.1365_1369dup
ENST00000645380.1:n.2659_2663dup
ENST00000645561.1:n.2371_2375dup
ENST00000645574.1:n.4059_4063dup
ENST00000645589.1:c.1195_1199dup	ENSP00000494588.1:p.Tyr400Ter
ENST00000646093.1:n.379_383dup
ENST00000646107.1:c.1078_1082dup	ENSP00000494518.1:p.Tyr361Ter
ENST00000646122.1:c.1195_1199dup	ENSP00000496222.1:p.Tyr400Ter
ENST00000646196.1:n.2164_2168dup
ENST00000646223.1:c.*1188_*1192dup	ENSP00000496043.1:n.*1188_*1192dup
ENST00000646319.1:c.1195_1199dup	ENSP00000495377.1:p.Tyr400Ter
ENST00000646390.1:n.3483_3487dup
ENST00000646627.1:c.637_641dup	ENSP00000493795.1:p.Tyr214Ter
ENST00000646679.1:c.637_641dup	ENSP00000494887.1:p.Tyr214Ter
ENST00000646822.1:n.2257_2261dup
ENST00000646940.1:n.1369_1373dup
ENST00000647286.1:n.1293_1297dup
ENST00000399959.6:c.1195_1199dup	ENSP00000382840.2:p.Tyr400Ter
ENST00000441189.3:c.341-2212_341-2208dup	ENSP00000414281.2:n.341-2212_341-2208dup
ENST00000457138.6:c.1147_1151dup	ENSP00000392494.2:p.Tyr384Ter
ENST00000478993.5:c.1195_1199dup	ENSP00000478443.1:p.Tyr400Ter
ENST00000542215.5:n.1243_1247dup
ENST00000625837.2:c.1195_1199dup	ENSP00000486306.1:p.Tyr400Ter
ENST00000626301.2:c.1195_1199dup	ENSP00000486443.1:p.Tyr400Ter
ENST00000629496.2:c.1195_1199dup	ENSP00000487224.1:p.Tyr400Ter
ENST00000629785.2:c.1195_1199dup	ENSP00000486516.1:p.Tyr400Ter
ENST00000630255.2:c.1195_1199dup	ENSP00000486720.1:p.Tyr400Ter
ENST00000630370.2:c.1195_1199dup	ENSP00000487062.1:p.Tyr400Ter
ENST00000630858.2:c.1195_1199dup	ENSP00000486514.1:p.Tyr400Ter
NM_001193416.2:c.1195_1199dup	NP_001180345.1:p.Tyr400Ter
NM_001193417.2:c.1147_1151dup	NP_001180346.1:p.Tyr384Ter
NM_001356.4:c.1195_1199dup	NP_001347.3:p.Tyr400Ter
NR_126093.1:n.2140_2144dup
XM_011543892.1:c.1195_1199dup	XP_011542194.1:p.Tyr400Ter
NM_001363819.1:c.637_641dup	NP_001350748.1:p.Tyr214Ter
XM_011543892.2:c.1195_1199dup	XP_011542194.1:p.Tyr400Ter
XM_017029313.1:c.637_641dup	XP_016884802.1:p.Tyr214Ter
NM_001193416.3:c.1195_1199dup	NP_001180345.1:p.Tyr400Ter
NM_001193417.3:c.1147_1151dup	NP_001180346.1:p.Tyr384Ter
NM_001356.5:c.1195_1199dup MANE Select	NP_001347.3:p.Tyr400Ter