Canonical Allele Identifier: CA2554913802

Gene: DDX3X

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346610_41346611insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT , CM000685.2:g.41346610_41346611insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	GRCh38
NC_000023.10:g.41205863_41205864insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT , CM000685.1:g.41205863_41205864insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	GRCh37
NC_000023.9:g.41090807_41090808insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	NCBI36
NG_012830.1:g.18213_18214insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
NG_012830.2:g.18213_18214insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1735_1736insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000496052.2:p.Val579AlafsTer16
ENST00000399959.7:c.1600_1601insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000382840.3:p.Val534AlafsTer16
ENST00000441189.4:c.1504_1505insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000414281.3:p.Val502AlafsTer16
ENST00000457138.7:c.1555_1556insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000392494.2:p.Val519AlafsTer16
ENST00000611968.2:c.197_198insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000616050.3:c.351_352insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000629496.3:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000487224.1:p.Val535AlafsTer16
ENST00000642161.1:n.3802_3803insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000642322.1:c.1045_1046insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000496052.1:p.Val349AlafsTer16
ENST00000642424.1:c.1045_1046insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000496356.1:p.Val349AlafsTer16
ENST00000642589.1:n.4925_4926insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000642597.1:n.1777_1778insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000642687.1:n.1636_1637insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000642722.1:n.2436_2437insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000642763.1:n.2494_2495insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000642793.1:c.*1052_*1053insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000493976.1:n.*1052_*1053insCAGGGAAAAAGGGCACAGCTGTTTCTT...
ENST00000642801.1:n.1252_1253insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000643820.1:n.973_974insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000643963.1:c.*885_*886insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000495264.1:n.*885_*886insCAGGGAAAAAGGGCACAGCTGTTTCTTTT...
ENST00000644073.1:c.1561_1562insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000493475.1:p.Val521AlafsTer16
ENST00000644074.1:c.1600_1601insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000496663.1:p.Val534AlafsTer16
ENST00000644109.1:c.1765_1766insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000494952.1:p.Val589AlafsTer16
ENST00000644307.1:n.1773_1774insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000644513.1:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000493819.1:p.Val535AlafsTer16
ENST00000644677.1:c.1486_1487insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000496524.1:p.Val496AlafsTer16
ENST00000644876.2:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT MANE Select	ENSP00000494040.1:p.Val535AlafsTer16
ENST00000644958.1:n.3264_3265insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000645080.1:c.*2825_*2826insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000494767.1:n.*2825_*2826insCAGGGAAAAAGGGCACAGCTGTTTCTT...
ENST00000645120.1:n.3098_3099insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000645338.1:n.1773_1774insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000645380.1:n.3067_3068insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000645561.1:n.2779_2780insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000645574.1:n.4467_4468insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000645589.1:c.*102_*103insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000494588.1:n.*102_*103insCAGGGAAAAAGGGCACAGCTGTTTCTTTT...
ENST00000646107.1:c.1486_1487insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000494518.1:p.Val496AlafsTer16
ENST00000646122.1:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000496222.1:p.Val535AlafsTer16
ENST00000646196.1:n.2572_2573insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000646223.1:c.*1596_*1597insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000496043.1:n.*1596_*1597insCAGGGAAAAAGGGCACAGCTGTTTCTT...
ENST00000646319.1:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000495377.1:p.Val535AlafsTer16
ENST00000646390.1:n.3891_3892insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000646627.1:c.1045_1046insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000493795.1:p.Val349AlafsTer16
ENST00000646679.1:c.1045_1046insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000494887.1:p.Val349AlafsTer16
ENST00000646822.1:n.2665_2666insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000646940.1:n.1777_1778insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000647286.1:n.1701_1702insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000647477.1:n.342_343insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000399959.6:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000382840.2:p.Val535AlafsTer16
ENST00000441189.3:c.341-1030_341-1029insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000414281.2:n.341-1030_341-1029insCAGGGAAAAAGGGCACAGCTG...
ENST00000457138.6:c.1555_1556insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000392494.2:p.Val519AlafsTer16
ENST00000478993.5:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000478443.1:p.Val535AlafsTer16
ENST00000611968.1:c.45_46insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000616050.2:c.156_157insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
ENST00000625837.2:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000486306.1:p.Val535AlafsTer16
ENST00000626301.2:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000486443.1:p.Val535AlafsTer16
ENST00000629496.2:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000487224.1:p.Val535AlafsTer16
ENST00000629785.2:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000486516.1:p.Val535AlafsTer16
ENST00000630255.2:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000486720.1:p.Val535AlafsTer16
ENST00000630370.2:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000487062.1:p.Val535AlafsTer16
ENST00000630858.2:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	ENSP00000486514.1:p.Val535AlafsTer16
NM_001193416.2:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	NP_001180345.1:p.Val535AlafsTer16
NM_001193417.2:c.1555_1556insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	NP_001180346.1:p.Val519AlafsTer16
NM_001356.4:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	NP_001347.3:p.Val535AlafsTer16
NR_126093.1:n.2548_2549insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT
XM_011543892.1:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	XP_011542194.1:p.Val535AlafsTer16
NM_001363819.1:c.1045_1046insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	NP_001350748.1:p.Val349AlafsTer16
XM_011543892.2:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	XP_011542194.1:p.Val535AlafsTer16
XM_017029313.1:c.1045_1046insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	XP_016884802.1:p.Val349AlafsTer16
NM_001193416.3:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	NP_001180345.1:p.Val535AlafsTer16
NM_001193417.3:c.1555_1556insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT	NP_001180346.1:p.Val519AlafsTer16
NM_001356.5:c.1603_1604insCAGGGAAAAAGGGCACAGCTGTTTCTTTTGTTGAAGCCCATGAT MANE Select	NP_001347.3:p.Val535AlafsTer16