Canonical Allele Identifier: CA319634

Gene: DDX3X

Linked Data

• dbSNP Id: rs796052229
• MyVariant Identifiers: chrX:g.41205550_41205551dupTA (hg19) ; chrX:g.41346297_41346298dupTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346297_41346298dup , CM000685.2:g.41346297_41346298dup	GRCh38
NC_000023.10:g.41205550_41205551dup , CM000685.1:g.41205550_41205551dup	GRCh37
NC_000023.9:g.41090494_41090495dup	NCBI36
NG_012830.1:g.17900_17901dup
NG_012830.2:g.17900_17901dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1516_1517dup	ENSP00000496052.2:p.His507ThrfsTer?
ENST00000399959.7:c.1381_1382dup	ENSP00000382840.3:p.His462ThrfsTer?
ENST00000441189.4:c.1285_1286dup	ENSP00000414281.3:p.His430ThrfsTer?
ENST00000457138.7:c.1336_1337dup	ENSP00000392494.2:p.His447ThrfsTer?
ENST00000616050.3:c.132_133dup
ENST00000629496.3:c.1384_1385dup	ENSP00000487224.1:p.His463ThrfsTer?
ENST00000642161.1:n.3583_3584dup
ENST00000642322.1:c.826_827dup	ENSP00000496052.1:p.His277ThrfsTer?
ENST00000642424.1:c.826_827dup	ENSP00000496356.1:p.His277ThrfsTer?
ENST00000642589.1:n.4706_4707dup
ENST00000642597.1:n.1558_1559dup
ENST00000642687.1:n.1417_1418dup
ENST00000642722.1:n.2217_2218dup
ENST00000642763.1:n.2275_2276dup
ENST00000642793.1:c.*833_*834dup	ENSP00000493976.1:n.*833_*834dup
ENST00000642801.1:n.1033_1034dup
ENST00000643820.1:n.660_661dup
ENST00000643963.1:c.*666_*667dup	ENSP00000495264.1:n.*666_*667dup
ENST00000644073.1:c.1342_1343dup	ENSP00000493475.1:p.His449ThrfsTer?
ENST00000644074.1:c.1381_1382dup	ENSP00000496663.1:p.His462ThrfsTer?
ENST00000644109.1:c.1546_1547dup	ENSP00000494952.1:p.His517ThrfsTer?
ENST00000644307.1:n.1554_1555dup
ENST00000644513.1:c.1384_1385dup	ENSP00000493819.1:p.His463ThrfsTer?
ENST00000644677.1:c.1267_1268dup	ENSP00000496524.1:p.His424ThrfsTer?
ENST00000644876.2:c.1384_1385dup MANE Select	ENSP00000494040.1:p.His463ThrfsTer?
ENST00000644958.1:n.3045_3046dup
ENST00000645080.1:c.*2606_*2607dup	ENSP00000494767.1:n.*2606_*2607dup
ENST00000645120.1:n.2879_2880dup
ENST00000645338.1:n.1554_1555dup
ENST00000645380.1:n.2848_2849dup
ENST00000645561.1:n.2560_2561dup
ENST00000645574.1:n.4248_4249dup
ENST00000645589.1:c.1384_1385dup	ENSP00000494588.1:p.His463ThrfsTer?
ENST00000646107.1:c.1267_1268dup	ENSP00000494518.1:p.His424ThrfsTer?
ENST00000646122.1:c.1384_1385dup	ENSP00000496222.1:p.His463ThrfsTer?
ENST00000646196.1:n.2353_2354dup
ENST00000646223.1:c.*1377_*1378dup	ENSP00000496043.1:n.*1377_*1378dup
ENST00000646319.1:c.1384_1385dup	ENSP00000495377.1:p.His463ThrfsTer?
ENST00000646390.1:n.3672_3673dup
ENST00000646627.1:c.826_827dup	ENSP00000493795.1:p.His277ThrfsTer?
ENST00000646679.1:c.826_827dup	ENSP00000494887.1:p.His277ThrfsTer?
ENST00000646822.1:n.2446_2447dup
ENST00000646940.1:n.1558_1559dup
ENST00000647286.1:n.1482_1483dup
ENST00000647477.1:n.123_124dup
ENST00000399959.6:c.1384_1385dup	ENSP00000382840.2:p.His463ThrfsTer?
ENST00000441189.3:c.341-1343_341-1342dup	ENSP00000414281.2:n.341-1343_341-1342dup
ENST00000457138.6:c.1336_1337dup	ENSP00000392494.2:p.His447ThrfsTer?
ENST00000478993.5:c.1384_1385dup	ENSP00000478443.1:p.His463ThrfsTer?
ENST00000542215.5:n.1432_1433dup
ENST00000625837.2:c.1384_1385dup	ENSP00000486306.1:p.His463ThrfsTer?
ENST00000626301.2:c.1384_1385dup	ENSP00000486443.1:p.His463ThrfsTer?
ENST00000629496.2:c.1384_1385dup	ENSP00000487224.1:p.His463ThrfsTer?
ENST00000629785.2:c.1384_1385dup	ENSP00000486516.1:p.His463ThrfsTer?
ENST00000630255.2:c.1384_1385dup	ENSP00000486720.1:p.His463ThrfsTer?
ENST00000630370.2:c.1384_1385dup	ENSP00000487062.1:p.His463ThrfsTer?
ENST00000630858.2:c.1384_1385dup	ENSP00000486514.1:p.His463ThrfsTer?
NM_001193416.2:c.1384_1385dup	NP_001180345.1:p.His463ThrfsTer?
NM_001193417.2:c.1336_1337dup	NP_001180346.1:p.His447ThrfsTer?
NM_001356.4:c.1384_1385dup	NP_001347.3:p.His463ThrfsTer?
NR_126093.1:n.2329_2330dup
XM_011543892.1:c.1384_1385dup	XP_011542194.1:p.His463ThrfsTer?
NM_001363819.1:c.826_827dup	NP_001350748.1:p.His277ThrfsTer?
XM_011543892.2:c.1384_1385dup	XP_011542194.1:p.His463ThrfsTer?
XM_017029313.1:c.826_827dup	XP_016884802.1:p.His277ThrfsTer?
NM_001193416.3:c.1384_1385dup	NP_001180345.1:p.His463ThrfsTer?
NM_001193417.3:c.1336_1337dup	NP_001180346.1:p.His447ThrfsTer?
NM_001356.5:c.1384_1385dup MANE Select	NP_001347.3:p.His463ThrfsTer?