Canonical Allele Identifier: CA2580617530

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2577962
• ClinVar RCV Id: RCV003325368

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345257_41345260dup , CM000685.2:g.41345257_41345260dup	GRCh38
NC_000023.10:g.41204510_41204513dup , CM000685.1:g.41204510_41204513dup	GRCh37
NC_000023.9:g.41089454_41089457dup	NCBI36
NG_012830.1:g.16860_16863dup
NG_012830.2:g.16860_16863dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1235_1238dup	ENSP00000496052.2:p.Met414TyrfsTer14
ENST00000399959.7:c.1100_1103dup	ENSP00000382840.3:p.Met369TyrfsTer14
ENST00000441189.4:c.1004_1007dup	ENSP00000414281.3:p.Met337TyrfsTer14
ENST00000457138.7:c.1055_1058dup	ENSP00000392494.2:p.Met354TyrfsTer14
ENST00000629496.3:c.1103_1106dup	ENSP00000487224.1:p.Met370TyrfsTer14
ENST00000642161.1:n.3302_3305dup
ENST00000642322.1:c.545_548dup	ENSP00000496052.1:p.Met184TyrfsTer14
ENST00000642424.1:c.545_548dup	ENSP00000496356.1:p.Met184TyrfsTer14
ENST00000642589.1:n.4425_4428dup
ENST00000642597.1:n.1277_1280dup
ENST00000642687.1:n.1136_1139dup
ENST00000642722.1:n.1936_1939dup
ENST00000642763.1:n.1994_1997dup
ENST00000642793.1:c.*552_*555dup	ENSP00000493976.1:n.*552_*555dup
ENST00000642801.1:n.752_755dup
ENST00000643820.1:n.379_382dup
ENST00000643963.1:c.*385_*388dup	ENSP00000495264.1:n.*385_*388dup
ENST00000644073.1:c.1061_1064dup	ENSP00000493475.1:p.Met356TyrfsTer14
ENST00000644074.1:c.1100_1103dup	ENSP00000496663.1:p.Met369TyrfsTer14
ENST00000644109.1:c.1265_1268dup	ENSP00000494952.1:p.Met424TyrfsTer14
ENST00000644307.1:n.1194_1197dup
ENST00000644513.1:c.1103_1106dup	ENSP00000493819.1:p.Met370TyrfsTer14
ENST00000644677.1:c.986_989dup	ENSP00000496524.1:p.Met331TyrfsTer14
ENST00000644876.2:c.1103_1106dup MANE Select	ENSP00000494040.1:p.Met370TyrfsTer14
ENST00000644958.1:n.2764_2767dup
ENST00000645080.1:c.*2325_*2328dup	ENSP00000494767.1:n.*2325_*2328dup
ENST00000645120.1:n.2598_2601dup
ENST00000645338.1:n.1194_1197dup
ENST00000645380.1:n.2488_2491dup
ENST00000645561.1:n.2279_2282dup
ENST00000645574.1:n.3967_3970dup
ENST00000645589.1:c.1103_1106dup	ENSP00000494588.1:p.Met370TyrfsTer14
ENST00000646093.1:n.287_290dup
ENST00000646107.1:c.986_989dup	ENSP00000494518.1:p.Met331TyrfsTer14
ENST00000646122.1:c.1103_1106dup	ENSP00000496222.1:p.Met370TyrfsTer14
ENST00000646196.1:n.2072_2075dup
ENST00000646223.1:c.*1096_*1099dup	ENSP00000496043.1:n.*1096_*1099dup
ENST00000646319.1:c.1103_1106dup	ENSP00000495377.1:p.Met370TyrfsTer14
ENST00000646390.1:n.3391_3394dup
ENST00000646627.1:c.545_548dup	ENSP00000493795.1:p.Met184TyrfsTer14
ENST00000646679.1:c.545_548dup	ENSP00000494887.1:p.Met184TyrfsTer14
ENST00000646822.1:n.2165_2168dup
ENST00000646940.1:n.1277_1280dup
ENST00000647286.1:n.1201_1204dup
ENST00000399959.6:c.1103_1106dup	ENSP00000382840.2:p.Met370TyrfsTer14
ENST00000441189.3:c.341-2383_341-2380dup	ENSP00000414281.2:n.341-2383_341-2380dup
ENST00000457138.6:c.1055_1058dup	ENSP00000392494.2:p.Met354TyrfsTer14
ENST00000478993.5:c.1103_1106dup	ENSP00000478443.1:p.Met370TyrfsTer14
ENST00000542215.5:n.1151_1154dup
ENST00000625837.2:c.1103_1106dup	ENSP00000486306.1:p.Met370TyrfsTer14
ENST00000626301.2:c.1103_1106dup	ENSP00000486443.1:p.Met370TyrfsTer14
ENST00000629496.2:c.1103_1106dup	ENSP00000487224.1:p.Met370TyrfsTer14
ENST00000629785.2:c.1103_1106dup	ENSP00000486516.1:p.Met370TyrfsTer14
ENST00000630255.2:c.1103_1106dup	ENSP00000486720.1:p.Met370TyrfsTer14
ENST00000630370.2:c.1103_1106dup	ENSP00000487062.1:p.Met370TyrfsTer14
ENST00000630858.2:c.1103_1106dup	ENSP00000486514.1:p.Met370TyrfsTer14
NM_001193416.2:c.1103_1106dup	NP_001180345.1:p.Met370TyrfsTer14
NM_001193417.2:c.1055_1058dup	NP_001180346.1:p.Met354TyrfsTer14
NM_001356.4:c.1103_1106dup	NP_001347.3:p.Met370TyrfsTer14
NR_126093.1:n.2048_2051dup
XM_011543892.1:c.1103_1106dup	XP_011542194.1:p.Met370TyrfsTer14
NM_001363819.1:c.545_548dup	NP_001350748.1:p.Met184TyrfsTer14
XM_011543892.2:c.1103_1106dup	XP_011542194.1:p.Met370TyrfsTer14
XM_017029313.1:c.545_548dup	XP_016884802.1:p.Met184TyrfsTer14
NM_001193416.3:c.1103_1106dup	NP_001180345.1:p.Met370TyrfsTer14
NM_001193417.3:c.1055_1058dup	NP_001180346.1:p.Met354TyrfsTer14
NM_001356.5:c.1103_1106dup MANE Select	NP_001347.3:p.Met370TyrfsTer14