Canonical Allele Identifier: CA1139667465

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 984544
• ClinVar RCV Id: RCV001264625
• dbSNP Id: rs2063928899

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346608_41346618del , CM000685.2:g.41346608_41346618del	GRCh38
NC_000023.10:g.41205861_41205871del , CM000685.1:g.41205861_41205871del	GRCh37
NC_000023.9:g.41090805_41090815del	NCBI36
NG_012830.1:g.18211_18221del
NG_012830.2:g.18211_18221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1733_1743del	ENSP00000496052.2:p.Arg578ProfsTer9
ENST00000399959.7:c.1598_1608del	ENSP00000382840.3:p.Arg533ProfsTer9
ENST00000441189.4:c.1502_1512del	ENSP00000414281.3:p.Arg501ProfsTer9
ENST00000457138.7:c.1553_1563del	ENSP00000392494.2:p.Arg518ProfsTer9
ENST00000611968.2:c.195_205del
ENST00000616050.3:c.349_359del
ENST00000629496.3:c.1601_1611del	ENSP00000487224.1:p.Arg534ProfsTer9
ENST00000642161.1:n.3800_3810del
ENST00000642322.1:c.1043_1053del	ENSP00000496052.1:p.Arg348ProfsTer9
ENST00000642424.1:c.1043_1053del	ENSP00000496356.1:p.Arg348ProfsTer9
ENST00000642589.1:n.4923_4933del
ENST00000642597.1:n.1775_1785del
ENST00000642687.1:n.1634_1644del
ENST00000642722.1:n.2434_2444del
ENST00000642763.1:n.2492_2502del
ENST00000642793.1:c.*1050_*1060del	ENSP00000493976.1:n.*1050_*1060del
ENST00000642801.1:n.1250_1260del
ENST00000643820.1:n.971_981del
ENST00000643963.1:c.*883_*893del	ENSP00000495264.1:n.*883_*893del
ENST00000644073.1:c.1559_1569del	ENSP00000493475.1:p.Arg520ProfsTer9
ENST00000644074.1:c.1598_1608del	ENSP00000496663.1:p.Arg533ProfsTer9
ENST00000644109.1:c.1763_1773del	ENSP00000494952.1:p.Arg588ProfsTer9
ENST00000644307.1:n.1771_1781del
ENST00000644513.1:c.1601_1611del	ENSP00000493819.1:p.Arg534ProfsTer9
ENST00000644677.1:c.1484_1494del	ENSP00000496524.1:p.Arg495ProfsTer9
ENST00000644876.2:c.1601_1611del MANE Select	ENSP00000494040.1:p.Arg534ProfsTer9
ENST00000644958.1:n.3262_3272del
ENST00000645080.1:c.*2823_*2833del	ENSP00000494767.1:n.*2823_*2833del
ENST00000645120.1:n.3096_3106del
ENST00000645338.1:n.1771_1781del
ENST00000645380.1:n.3065_3075del
ENST00000645561.1:n.2777_2787del
ENST00000645574.1:n.4465_4475del
ENST00000645589.1:c.*100_*110del	ENSP00000494588.1:n.*100_*110del
ENST00000646107.1:c.1484_1494del	ENSP00000494518.1:p.Arg495ProfsTer9
ENST00000646122.1:c.1601_1611del	ENSP00000496222.1:p.Arg534ProfsTer9
ENST00000646196.1:n.2570_2580del
ENST00000646223.1:c.*1594_*1604del	ENSP00000496043.1:n.*1594_*1604del
ENST00000646319.1:c.1601_1611del	ENSP00000495377.1:p.Arg534ProfsTer9
ENST00000646390.1:n.3889_3899del
ENST00000646627.1:c.1043_1053del	ENSP00000493795.1:p.Arg348ProfsTer9
ENST00000646679.1:c.1043_1053del	ENSP00000494887.1:p.Arg348ProfsTer9
ENST00000646822.1:n.2663_2673del
ENST00000646940.1:n.1775_1785del
ENST00000647286.1:n.1699_1709del
ENST00000647477.1:n.340_350del
ENST00000399959.6:c.1601_1611del	ENSP00000382840.2:p.Arg534ProfsTer9
ENST00000441189.3:c.341-1032_341-1022del	ENSP00000414281.2:n.341-1032_341-1022del
ENST00000457138.6:c.1553_1563del	ENSP00000392494.2:p.Arg518ProfsTer9
ENST00000478993.5:c.1601_1611del	ENSP00000478443.1:p.Arg534ProfsTer9
ENST00000611968.1:c.43_53del
ENST00000616050.2:c.154_164del
ENST00000625837.2:c.1601_1611del	ENSP00000486306.1:p.Arg534ProfsTer9
ENST00000626301.2:c.1601_1611del	ENSP00000486443.1:p.Arg534ProfsTer9
ENST00000629496.2:c.1601_1611del	ENSP00000487224.1:p.Arg534ProfsTer9
ENST00000629785.2:c.1601_1611del	ENSP00000486516.1:p.Arg534ProfsTer9
ENST00000630255.2:c.1601_1611del	ENSP00000486720.1:p.Arg534ProfsTer9
ENST00000630370.2:c.1601_1611del	ENSP00000487062.1:p.Arg534ProfsTer9
ENST00000630858.2:c.1601_1611del	ENSP00000486514.1:p.Arg534ProfsTer9
NM_001193416.2:c.1601_1611del	NP_001180345.1:p.Arg534ProfsTer9
NM_001193417.2:c.1553_1563del	NP_001180346.1:p.Arg518ProfsTer9
NM_001356.4:c.1601_1611del	NP_001347.3:p.Arg534ProfsTer9
NR_126093.1:n.2546_2556del
XM_011543892.1:c.1601_1611del	XP_011542194.1:p.Arg534ProfsTer9
NM_001363819.1:c.1043_1053del	NP_001350748.1:p.Arg348ProfsTer9
XM_011543892.2:c.1601_1611del	XP_011542194.1:p.Arg534ProfsTer9
XM_017029313.1:c.1043_1053del	XP_016884802.1:p.Arg348ProfsTer9
NM_001193416.3:c.1601_1611del	NP_001180345.1:p.Arg534ProfsTer9
NM_001193417.3:c.1553_1563del	NP_001180346.1:p.Arg518ProfsTer9
NM_001356.5:c.1601_1611del MANE Select	NP_001347.3:p.Arg534ProfsTer9