Canonical Allele Identifier: CA2499226721

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1285558
• ClinVar RCV Id: RCV001706915
• dbSNP Id: rs2147358635

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346356dup , CM000685.2:g.41346356dup	GRCh38
NC_000023.10:g.41205609dup , CM000685.1:g.41205609dup	GRCh37
NC_000023.9:g.41090553dup	NCBI36
NG_012830.1:g.17959dup
NG_012830.2:g.17959dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1575dup	ENSP00000496052.2:p.Glu526ArgfsTer?
ENST00000399959.7:c.1440dup	ENSP00000382840.3:p.Glu481ArgfsTer?
ENST00000441189.4:c.1344dup	ENSP00000414281.3:p.Glu449ArgfsTer?
ENST00000457138.7:c.1395dup	ENSP00000392494.2:p.Glu466ArgfsTer?
ENST00000611968.2:c.37dup
ENST00000616050.3:c.191dup
ENST00000629496.3:c.1443dup	ENSP00000487224.1:p.Glu482ArgfsTer?
ENST00000642161.1:n.3642dup
ENST00000642322.1:c.885dup	ENSP00000496052.1:p.Glu296ArgfsTer?
ENST00000642424.1:c.885dup	ENSP00000496356.1:p.Glu296ArgfsTer?
ENST00000642589.1:n.4765dup
ENST00000642597.1:n.1617dup
ENST00000642687.1:n.1476dup
ENST00000642722.1:n.2276dup
ENST00000642763.1:n.2334dup
ENST00000642793.1:c.*892dup	ENSP00000493976.1:n.*892dup
ENST00000642801.1:n.1092dup
ENST00000643820.1:n.719dup
ENST00000643963.1:c.*725dup	ENSP00000495264.1:n.*725dup
ENST00000644073.1:c.1401dup	ENSP00000493475.1:p.Glu468ArgfsTer?
ENST00000644074.1:c.1440dup	ENSP00000496663.1:p.Glu481ArgfsTer?
ENST00000644109.1:c.1605dup	ENSP00000494952.1:p.Glu536ArgfsTer?
ENST00000644307.1:n.1613dup
ENST00000644513.1:c.1443dup	ENSP00000493819.1:p.Glu482ArgfsTer?
ENST00000644677.1:c.1326dup	ENSP00000496524.1:p.Glu443ArgfsTer?
ENST00000644876.2:c.1443dup MANE Select	ENSP00000494040.1:p.Glu482ArgfsTer?
ENST00000644958.1:n.3104dup
ENST00000645080.1:c.*2665dup	ENSP00000494767.1:n.*2665dup
ENST00000645120.1:n.2938dup
ENST00000645338.1:n.1613dup
ENST00000645380.1:n.2907dup
ENST00000645561.1:n.2619dup
ENST00000645574.1:n.4307dup
ENST00000645589.1:c.1443dup	ENSP00000494588.1:p.Glu482ArgfsTer?
ENST00000646107.1:c.1326dup	ENSP00000494518.1:p.Glu443ArgfsTer?
ENST00000646122.1:c.1443dup	ENSP00000496222.1:p.Glu482ArgfsTer?
ENST00000646196.1:n.2412dup
ENST00000646223.1:c.*1436dup	ENSP00000496043.1:n.*1436dup
ENST00000646319.1:c.1443dup	ENSP00000495377.1:p.Glu482ArgfsTer?
ENST00000646390.1:n.3731dup
ENST00000646627.1:c.885dup	ENSP00000493795.1:p.Glu296ArgfsTer?
ENST00000646679.1:c.885dup	ENSP00000494887.1:p.Glu296ArgfsTer?
ENST00000646822.1:n.2505dup
ENST00000646940.1:n.1617dup
ENST00000647286.1:n.1541dup
ENST00000647477.1:n.182dup
ENST00000399959.6:c.1443dup	ENSP00000382840.2:p.Glu482ArgfsTer?
ENST00000441189.3:c.341-1284dup	ENSP00000414281.2:n.341-1284dup
ENST00000457138.6:c.1395dup	ENSP00000392494.2:p.Glu466ArgfsTer?
ENST00000478993.5:c.1443dup	ENSP00000478443.1:p.Glu482ArgfsTer?
ENST00000542215.5:n.1491dup
ENST00000625837.2:c.1443dup	ENSP00000486306.1:p.Glu482ArgfsTer?
ENST00000626301.2:c.1443dup	ENSP00000486443.1:p.Glu482ArgfsTer?
ENST00000629496.2:c.1443dup	ENSP00000487224.1:p.Glu482ArgfsTer?
ENST00000629785.2:c.1443dup	ENSP00000486516.1:p.Glu482ArgfsTer?
ENST00000630255.2:c.1443dup	ENSP00000486720.1:p.Glu482ArgfsTer?
ENST00000630370.2:c.1443dup	ENSP00000487062.1:p.Glu482ArgfsTer?
ENST00000630858.2:c.1443dup	ENSP00000486514.1:p.Glu482ArgfsTer?
NM_001193416.2:c.1443dup	NP_001180345.1:p.Glu482ArgfsTer?
NM_001193417.2:c.1395dup	NP_001180346.1:p.Glu466ArgfsTer?
NM_001356.4:c.1443dup	NP_001347.3:p.Glu482ArgfsTer?
NR_126093.1:n.2388dup
XM_011543892.1:c.1443dup	XP_011542194.1:p.Glu482ArgfsTer?
NM_001363819.1:c.885dup	NP_001350748.1:p.Glu296ArgfsTer?
XM_011543892.2:c.1443dup	XP_011542194.1:p.Glu482ArgfsTer?
XM_017029313.1:c.885dup	XP_016884802.1:p.Glu296ArgfsTer?
NM_001193416.3:c.1443dup	NP_001180345.1:p.Glu482ArgfsTer?
NM_001193417.3:c.1395dup	NP_001180346.1:p.Glu466ArgfsTer?
NM_001356.5:c.1443dup MANE Select	NP_001347.3:p.Glu482ArgfsTer?