Canonical Allele Identifier: CA915950999

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 666561
• ClinVar RCV Id: RCV000824983
• dbSNP Id: rs1602136369

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346570dup , CM000685.2:g.41346570dup	GRCh38
NC_000023.10:g.41205823dup , CM000685.1:g.41205823dup	GRCh37
NC_000023.9:g.41090767dup	NCBI36
NG_012830.1:g.18173dup
NG_012830.2:g.18173dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1695dup	ENSP00000496052.2:p.Ile566TyrfsTer2
ENST00000399959.7:c.1560dup	ENSP00000382840.3:p.Ile521TyrfsTer2
ENST00000441189.4:c.1464dup	ENSP00000414281.3:p.Ile489TyrfsTer2
ENST00000457138.7:c.1515dup	ENSP00000392494.2:p.Ile506TyrfsTer2
ENST00000611968.2:c.157dup
ENST00000616050.3:c.311dup
ENST00000629496.3:c.1563dup	ENSP00000487224.1:p.Ile522TyrfsTer2
ENST00000642161.1:n.3762dup
ENST00000642322.1:c.1005dup	ENSP00000496052.1:p.Ile336TyrfsTer2
ENST00000642424.1:c.1005dup	ENSP00000496356.1:p.Ile336TyrfsTer2
ENST00000642589.1:n.4885dup
ENST00000642597.1:n.1737dup
ENST00000642687.1:n.1596dup
ENST00000642722.1:n.2396dup
ENST00000642763.1:n.2454dup
ENST00000642793.1:c.*1012dup	ENSP00000493976.1:n.*1012dup
ENST00000642801.1:n.1212dup
ENST00000643820.1:n.933dup
ENST00000643963.1:c.*845dup	ENSP00000495264.1:n.*845dup
ENST00000644073.1:c.1521dup	ENSP00000493475.1:p.Ile508TyrfsTer2
ENST00000644074.1:c.1560dup	ENSP00000496663.1:p.Ile521TyrfsTer2
ENST00000644109.1:c.1725dup	ENSP00000494952.1:p.Ile576TyrfsTer2
ENST00000644307.1:n.1733dup
ENST00000644513.1:c.1563dup	ENSP00000493819.1:p.Ile522TyrfsTer2
ENST00000644677.1:c.1446dup	ENSP00000496524.1:p.Ile483TyrfsTer2
ENST00000644876.2:c.1563dup MANE Select	ENSP00000494040.1:p.Ile522TyrfsTer2
ENST00000644958.1:n.3224dup
ENST00000645080.1:c.*2785dup	ENSP00000494767.1:n.*2785dup
ENST00000645120.1:n.3058dup
ENST00000645338.1:n.1733dup
ENST00000645380.1:n.3027dup
ENST00000645561.1:n.2739dup
ENST00000645574.1:n.4427dup
ENST00000645589.1:c.*62dup	ENSP00000494588.1:n.*62dup
ENST00000646107.1:c.1446dup	ENSP00000494518.1:p.Ile483TyrfsTer2
ENST00000646122.1:c.1563dup	ENSP00000496222.1:p.Ile522TyrfsTer2
ENST00000646196.1:n.2532dup
ENST00000646223.1:c.*1556dup	ENSP00000496043.1:n.*1556dup
ENST00000646319.1:c.1563dup	ENSP00000495377.1:p.Ile522TyrfsTer2
ENST00000646390.1:n.3851dup
ENST00000646627.1:c.1005dup	ENSP00000493795.1:p.Ile336TyrfsTer2
ENST00000646679.1:c.1005dup	ENSP00000494887.1:p.Ile336TyrfsTer2
ENST00000646822.1:n.2625dup
ENST00000646940.1:n.1737dup
ENST00000647286.1:n.1661dup
ENST00000647477.1:n.302dup
ENST00000399959.6:c.1563dup	ENSP00000382840.2:p.Ile522TyrfsTer2
ENST00000441189.3:c.341-1070dup	ENSP00000414281.2:n.341-1070dup
ENST00000457138.6:c.1515dup	ENSP00000392494.2:p.Ile506TyrfsTer2
ENST00000478993.5:c.1563dup	ENSP00000478443.1:p.Ile522TyrfsTer2
ENST00000611968.1:c.5dup
ENST00000616050.2:c.116dup
ENST00000625837.2:c.1563dup	ENSP00000486306.1:p.Ile522TyrfsTer2
ENST00000626301.2:c.1563dup	ENSP00000486443.1:p.Ile522TyrfsTer2
ENST00000629496.2:c.1563dup	ENSP00000487224.1:p.Ile522TyrfsTer2
ENST00000629785.2:c.1563dup	ENSP00000486516.1:p.Ile522TyrfsTer2
ENST00000630255.2:c.1563dup	ENSP00000486720.1:p.Ile522TyrfsTer2
ENST00000630370.2:c.1563dup	ENSP00000487062.1:p.Ile522TyrfsTer2
ENST00000630858.2:c.1563dup	ENSP00000486514.1:p.Ile522TyrfsTer2
NM_001193416.2:c.1563dup	NP_001180345.1:p.Ile522TyrfsTer2
NM_001193417.2:c.1515dup	NP_001180346.1:p.Ile506TyrfsTer2
NM_001356.4:c.1563dup	NP_001347.3:p.Ile522TyrfsTer2
NR_126093.1:n.2508dup
XM_011543892.1:c.1563dup	XP_011542194.1:p.Ile522TyrfsTer2
NM_001363819.1:c.1005dup	NP_001350748.1:p.Ile336TyrfsTer2
XM_011543892.2:c.1563dup	XP_011542194.1:p.Ile522TyrfsTer2
XM_017029313.1:c.1005dup	XP_016884802.1:p.Ile336TyrfsTer2
NM_001193416.3:c.1563dup	NP_001180345.1:p.Ile522TyrfsTer2
NM_001193417.3:c.1515dup	NP_001180346.1:p.Ile506TyrfsTer2
NM_001356.5:c.1563dup MANE Select	NP_001347.3:p.Ile522TyrfsTer2