Canonical Allele Identifier: CA915950997

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 689754
• ClinVar RCV Id: RCV000850545
• dbSNP Id: rs1602134468

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345413_41345418dup , CM000685.2:g.41345413_41345418dup	GRCh38
NC_000023.10:g.41204666_41204671dup , CM000685.1:g.41204666_41204671dup	GRCh37
NC_000023.9:g.41089610_41089615dup	NCBI36
NG_012830.1:g.17016_17021dup
NG_012830.2:g.17016_17021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1312_1317dup	ENSP00000496052.2:p.Asp439_Phe440insArgAsp
ENST00000399959.7:c.1177_1182dup	ENSP00000382840.3:p.Asp394_Phe395insArgAsp
ENST00000441189.4:c.1081_1086dup	ENSP00000414281.3:p.Asp362_Phe363insArgAsp
ENST00000457138.7:c.1132_1137dup	ENSP00000392494.2:p.Asp379_Phe380insArgAsp
ENST00000629496.3:c.1180_1185dup	ENSP00000487224.1:p.Asp395_Phe396insArgAsp
ENST00000642161.1:n.3379_3384dup
ENST00000642322.1:c.622_627dup	ENSP00000496052.1:p.Asp209_Phe210insArgAsp
ENST00000642424.1:c.622_627dup	ENSP00000496356.1:p.Asp209_Phe210insArgAsp
ENST00000642589.1:n.4502_4507dup
ENST00000642597.1:n.1354_1359dup
ENST00000642687.1:n.1213_1218dup
ENST00000642722.1:n.2013_2018dup
ENST00000642763.1:n.2071_2076dup
ENST00000642793.1:c.*629_*634dup	ENSP00000493976.1:n.*629_*634dup
ENST00000642801.1:n.829_834dup
ENST00000643820.1:n.456_461dup
ENST00000643963.1:c.*462_*467dup	ENSP00000495264.1:n.*462_*467dup
ENST00000644073.1:c.1138_1143dup	ENSP00000493475.1:p.Asp381_Phe382insArgAsp
ENST00000644074.1:c.1177_1182dup	ENSP00000496663.1:p.Asp394_Phe395insArgAsp
ENST00000644109.1:c.1342_1347dup	ENSP00000494952.1:p.Asp449_Phe450insArgAsp
ENST00000644307.1:n.1350_1355dup
ENST00000644513.1:c.1180_1185dup	ENSP00000493819.1:p.Asp395_Phe396insArgAsp
ENST00000644677.1:c.1063_1068dup	ENSP00000496524.1:p.Asp356_Phe357insArgAsp
ENST00000644876.2:c.1180_1185dup MANE Select	ENSP00000494040.1:p.Asp395_Phe396insArgAsp
ENST00000644958.1:n.2841_2846dup
ENST00000645080.1:c.*2402_*2407dup	ENSP00000494767.1:n.*2402_*2407dup
ENST00000645120.1:n.2675_2680dup
ENST00000645338.1:n.1350_1355dup
ENST00000645380.1:n.2644_2649dup
ENST00000645561.1:n.2356_2361dup
ENST00000645574.1:n.4044_4049dup
ENST00000645589.1:c.1180_1185dup	ENSP00000494588.1:p.Asp395_Phe396insArgAsp
ENST00000646093.1:n.364_369dup
ENST00000646107.1:c.1063_1068dup	ENSP00000494518.1:p.Asp356_Phe357insArgAsp
ENST00000646122.1:c.1180_1185dup	ENSP00000496222.1:p.Asp395_Phe396insArgAsp
ENST00000646196.1:n.2149_2154dup
ENST00000646223.1:c.*1173_*1178dup	ENSP00000496043.1:n.*1173_*1178dup
ENST00000646319.1:c.1180_1185dup	ENSP00000495377.1:p.Asp395_Phe396insArgAsp
ENST00000646390.1:n.3468_3473dup
ENST00000646627.1:c.622_627dup	ENSP00000493795.1:p.Asp209_Phe210insArgAsp
ENST00000646679.1:c.622_627dup	ENSP00000494887.1:p.Asp209_Phe210insArgAsp
ENST00000646822.1:n.2242_2247dup
ENST00000646940.1:n.1354_1359dup
ENST00000647286.1:n.1278_1283dup
ENST00000399959.6:c.1180_1185dup	ENSP00000382840.2:p.Asp395_Phe396insArgAsp
ENST00000441189.3:c.341-2227_341-2222dup	ENSP00000414281.2:n.341-2227_341-2222dup
ENST00000457138.6:c.1132_1137dup	ENSP00000392494.2:p.Asp379_Phe380insArgAsp
ENST00000478993.5:c.1180_1185dup	ENSP00000478443.1:p.Asp395_Phe396insArgAsp
ENST00000542215.5:n.1228_1233dup
ENST00000625837.2:c.1180_1185dup	ENSP00000486306.1:p.Asp395_Phe396insArgAsp
ENST00000626301.2:c.1180_1185dup	ENSP00000486443.1:p.Asp395_Phe396insArgAsp
ENST00000629496.2:c.1180_1185dup	ENSP00000487224.1:p.Asp395_Phe396insArgAsp
ENST00000629785.2:c.1180_1185dup	ENSP00000486516.1:p.Asp395_Phe396insArgAsp
ENST00000630255.2:c.1180_1185dup	ENSP00000486720.1:p.Asp395_Phe396insArgAsp
ENST00000630370.2:c.1180_1185dup	ENSP00000487062.1:p.Asp395_Phe396insArgAsp
ENST00000630858.2:c.1180_1185dup	ENSP00000486514.1:p.Asp395_Phe396insArgAsp
NM_001193416.2:c.1180_1185dup	NP_001180345.1:p.Asp395_Phe396insArgAsp
NM_001193417.2:c.1132_1137dup	NP_001180346.1:p.Asp379_Phe380insArgAsp
NM_001356.4:c.1180_1185dup	NP_001347.3:p.Asp395_Phe396insArgAsp
NR_126093.1:n.2125_2130dup
XM_011543892.1:c.1180_1185dup	XP_011542194.1:p.Asp395_Phe396insArgAsp
NM_001363819.1:c.622_627dup	NP_001350748.1:p.Asp209_Phe210insArgAsp
XM_011543892.2:c.1180_1185dup	XP_011542194.1:p.Asp395_Phe396insArgAsp
XM_017029313.1:c.622_627dup	XP_016884802.1:p.Asp209_Phe210insArgAsp
NM_001193416.3:c.1180_1185dup	NP_001180345.1:p.Asp395_Phe396insArgAsp
NM_001193417.3:c.1132_1137dup	NP_001180346.1:p.Asp379_Phe380insArgAsp
NM_001356.5:c.1180_1185dup MANE Select	NP_001347.3:p.Asp395_Phe396insArgAsp