Canonical Allele Identifier: CA1139667459

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 981249
• ClinVar RCV Id: RCV001260597
• dbSNP Id: rs2063893070

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344342_41344346dup , CM000685.2:g.41344342_41344346dup	GRCh38
NC_000023.10:g.41203595_41203599dup , CM000685.1:g.41203595_41203599dup	GRCh37
NC_000023.9:g.41088539_41088543dup	NCBI36
NG_012830.1:g.15945_15949dup
NG_012830.2:g.15945_15949dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1100_1104dup	ENSP00000496052.2:p.Gly369LeufsTer5
ENST00000399959.7:c.965_969dup	ENSP00000382840.3:p.Gly324LeufsTer5
ENST00000441189.4:c.869_873dup	ENSP00000414281.3:p.Gly292LeufsTer5
ENST00000457138.7:c.920_924dup	ENSP00000392494.2:p.Gly309LeufsTer5
ENST00000629496.3:c.968_972dup	ENSP00000487224.1:p.Gly325LeufsTer5
ENST00000631641.2:n.1011_1015dup
ENST00000642161.1:n.3167_3171dup
ENST00000642322.1:c.410_414dup	ENSP00000496052.1:p.Gly139LeufsTer5
ENST00000642424.1:c.410_414dup	ENSP00000496356.1:p.Gly139LeufsTer5
ENST00000642589.1:n.4290_4294dup
ENST00000642597.1:n.1142_1146dup
ENST00000642687.1:n.1001_1005dup
ENST00000642722.1:n.1801_1805dup
ENST00000642763.1:n.1859_1863dup
ENST00000642793.1:c.*417_*421dup	ENSP00000493976.1:n.*417_*421dup
ENST00000642801.1:n.617_621dup
ENST00000643820.1:n.244_248dup
ENST00000643963.1:c.*250_*254dup	ENSP00000495264.1:n.*250_*254dup
ENST00000644073.1:c.926_930dup	ENSP00000493475.1:p.Gly311LeufsTer5
ENST00000644074.1:c.965_969dup	ENSP00000496663.1:p.Gly324LeufsTer5
ENST00000644109.1:c.965_969dup	ENSP00000494952.1:p.Gly324LeufsTer5
ENST00000644307.1:n.1059_1063dup
ENST00000644513.1:c.968_972dup	ENSP00000493819.1:p.Gly325LeufsTer5
ENST00000644677.1:c.851_855dup	ENSP00000496524.1:p.Gly286LeufsTer5
ENST00000644876.2:c.968_972dup MANE Select	ENSP00000494040.1:p.Gly325LeufsTer5
ENST00000644958.1:n.2629_2633dup
ENST00000645080.1:c.*2190_*2194dup	ENSP00000494767.1:n.*2190_*2194dup
ENST00000645120.1:n.2463_2467dup
ENST00000645338.1:n.1059_1063dup
ENST00000645380.1:n.2353_2357dup
ENST00000645561.1:n.2144_2148dup
ENST00000645574.1:n.3832_3836dup
ENST00000645589.1:c.968_972dup	ENSP00000494588.1:p.Gly325LeufsTer5
ENST00000646093.1:n.152_156dup
ENST00000646107.1:c.851_855dup	ENSP00000494518.1:p.Gly286LeufsTer5
ENST00000646122.1:c.968_972dup	ENSP00000496222.1:p.Gly325LeufsTer5
ENST00000646196.1:n.1937_1941dup
ENST00000646223.1:c.*961_*965dup	ENSP00000496043.1:n.*961_*965dup
ENST00000646319.1:c.968_972dup	ENSP00000495377.1:p.Gly325LeufsTer5
ENST00000646390.1:n.3256_3260dup
ENST00000646627.1:c.410_414dup	ENSP00000493795.1:p.Gly139LeufsTer5
ENST00000646679.1:c.410_414dup	ENSP00000494887.1:p.Gly139LeufsTer5
ENST00000646822.1:n.2030_2034dup
ENST00000646940.1:n.1142_1146dup
ENST00000647286.1:n.1066_1070dup
ENST00000399959.6:c.968_972dup	ENSP00000382840.2:p.Gly325LeufsTer5
ENST00000441189.3:c.340+1792_340+1796dup	ENSP00000414281.2:n.340+1792_340+1796dup
ENST00000457138.6:c.920_924dup	ENSP00000392494.2:p.Gly309LeufsTer5
ENST00000478993.5:c.968_972dup	ENSP00000478443.1:p.Gly325LeufsTer5
ENST00000542215.5:n.1016_1020dup
ENST00000625837.2:c.968_972dup	ENSP00000486306.1:p.Gly325LeufsTer5
ENST00000626301.2:c.968_972dup	ENSP00000486443.1:p.Gly325LeufsTer5
ENST00000629496.2:c.968_972dup	ENSP00000487224.1:p.Gly325LeufsTer5
ENST00000629785.2:c.968_972dup	ENSP00000486516.1:p.Gly325LeufsTer5
ENST00000630255.2:c.968_972dup	ENSP00000486720.1:p.Gly325LeufsTer5
ENST00000630370.2:c.968_972dup	ENSP00000487062.1:p.Gly325LeufsTer5
ENST00000630858.2:c.968_972dup	ENSP00000486514.1:p.Gly325LeufsTer5
NM_001193416.2:c.968_972dup	NP_001180345.1:p.Gly325LeufsTer5
NM_001193417.2:c.920_924dup	NP_001180346.1:p.Gly309LeufsTer5
NM_001356.4:c.968_972dup	NP_001347.3:p.Gly325LeufsTer5
NR_126093.1:n.1913_1917dup
XM_011543892.1:c.968_972dup	XP_011542194.1:p.Gly325LeufsTer5
NM_001363819.1:c.410_414dup	NP_001350748.1:p.Gly139LeufsTer5
XM_011543892.2:c.968_972dup	XP_011542194.1:p.Gly325LeufsTer5
XM_017029313.1:c.410_414dup	XP_016884802.1:p.Gly139LeufsTer5
NM_001193416.3:c.968_972dup	NP_001180345.1:p.Gly325LeufsTer5
NM_001193417.3:c.920_924dup	NP_001180346.1:p.Gly309LeufsTer5
NM_001356.5:c.968_972dup MANE Select	NP_001347.3:p.Gly325LeufsTer5