Canonical Allele Identifier: CA2566980968

Gene: DDX3X

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346606_41346607insAAAAAGGCACGGC , CM000685.2:g.41346606_41346607insAAAAAGGCACGGC	GRCh38
NC_000023.10:g.41205859_41205860insAAAAAGGCACGGC , CM000685.1:g.41205859_41205860insAAAAAGGCACGGC	GRCh37
NC_000023.9:g.41090803_41090804insAAAAAGGCACGGC	NCBI36
NG_012830.1:g.18209_18210insAAAAAGGCACGGC
NG_012830.2:g.18209_18210insAAAAAGGCACGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1731_1732insAAAAAGGCACGGC	ENSP00000496052.2:p.Arg578LysfsTer17
ENST00000399959.7:c.1596_1597insAAAAAGGCACGGC	ENSP00000382840.3:p.Arg533LysfsTer17
ENST00000441189.4:c.1500_1501insAAAAAGGCACGGC	ENSP00000414281.3:p.Arg501LysfsTer17
ENST00000457138.7:c.1551_1552insAAAAAGGCACGGC	ENSP00000392494.2:p.Arg518LysfsTer17
ENST00000611968.2:c.193_194insAAAAAGGCACGGC
ENST00000616050.3:c.347_348insAAAAAGGCACGGC
ENST00000629496.3:c.1599_1600insAAAAAGGCACGGC	ENSP00000487224.1:p.Arg534LysfsTer17
ENST00000642161.1:n.3798_3799insAAAAAGGCACGGC
ENST00000642322.1:c.1041_1042insAAAAAGGCACGGC	ENSP00000496052.1:p.Arg348LysfsTer17
ENST00000642424.1:c.1041_1042insAAAAAGGCACGGC	ENSP00000496356.1:p.Arg348LysfsTer17
ENST00000642589.1:n.4921_4922insAAAAAGGCACGGC
ENST00000642597.1:n.1773_1774insAAAAAGGCACGGC
ENST00000642687.1:n.1632_1633insAAAAAGGCACGGC
ENST00000642722.1:n.2432_2433insAAAAAGGCACGGC
ENST00000642763.1:n.2490_2491insAAAAAGGCACGGC
ENST00000642793.1:c.*1048_*1049insAAAAAGGCACGGC	ENSP00000493976.1:n.*1048_*1049insAAAAAGGCACGGC
ENST00000642801.1:n.1248_1249insAAAAAGGCACGGC
ENST00000643820.1:n.969_970insAAAAAGGCACGGC
ENST00000643963.1:c.*881_*882insAAAAAGGCACGGC	ENSP00000495264.1:n.*881_*882insAAAAAGGCACGGC
ENST00000644073.1:c.1557_1558insAAAAAGGCACGGC	ENSP00000493475.1:p.Arg520LysfsTer17
ENST00000644074.1:c.1596_1597insAAAAAGGCACGGC	ENSP00000496663.1:p.Arg533LysfsTer17
ENST00000644109.1:c.1761_1762insAAAAAGGCACGGC	ENSP00000494952.1:p.Arg588LysfsTer17
ENST00000644307.1:n.1769_1770insAAAAAGGCACGGC
ENST00000644513.1:c.1599_1600insAAAAAGGCACGGC	ENSP00000493819.1:p.Arg534LysfsTer17
ENST00000644677.1:c.1482_1483insAAAAAGGCACGGC	ENSP00000496524.1:p.Arg495LysfsTer17
ENST00000644876.2:c.1599_1600insAAAAAGGCACGGC MANE Select	ENSP00000494040.1:p.Arg534LysfsTer17
ENST00000644958.1:n.3260_3261insAAAAAGGCACGGC
ENST00000645080.1:c.*2821_*2822insAAAAAGGCACGGC	ENSP00000494767.1:n.*2821_*2822insAAAAAGGCACGGC
ENST00000645120.1:n.3094_3095insAAAAAGGCACGGC
ENST00000645338.1:n.1769_1770insAAAAAGGCACGGC
ENST00000645380.1:n.3063_3064insAAAAAGGCACGGC
ENST00000645561.1:n.2775_2776insAAAAAGGCACGGC
ENST00000645574.1:n.4463_4464insAAAAAGGCACGGC
ENST00000645589.1:c.*98_*99insAAAAAGGCACGGC	ENSP00000494588.1:n.*98_*99insAAAAAGGCACGGC
ENST00000646107.1:c.1482_1483insAAAAAGGCACGGC	ENSP00000494518.1:p.Arg495LysfsTer17
ENST00000646122.1:c.1599_1600insAAAAAGGCACGGC	ENSP00000496222.1:p.Arg534LysfsTer17
ENST00000646196.1:n.2568_2569insAAAAAGGCACGGC
ENST00000646223.1:c.*1592_*1593insAAAAAGGCACGGC	ENSP00000496043.1:n.*1592_*1593insAAAAAGGCACGGC
ENST00000646319.1:c.1599_1600insAAAAAGGCACGGC	ENSP00000495377.1:p.Arg534LysfsTer17
ENST00000646390.1:n.3887_3888insAAAAAGGCACGGC
ENST00000646627.1:c.1041_1042insAAAAAGGCACGGC	ENSP00000493795.1:p.Arg348LysfsTer17
ENST00000646679.1:c.1041_1042insAAAAAGGCACGGC	ENSP00000494887.1:p.Arg348LysfsTer17
ENST00000646822.1:n.2661_2662insAAAAAGGCACGGC
ENST00000646940.1:n.1773_1774insAAAAAGGCACGGC
ENST00000647286.1:n.1697_1698insAAAAAGGCACGGC
ENST00000647477.1:n.338_339insAAAAAGGCACGGC
ENST00000399959.6:c.1599_1600insAAAAAGGCACGGC	ENSP00000382840.2:p.Arg534LysfsTer17
ENST00000441189.3:c.341-1034_341-1033insAAAAAGGCACGGC	ENSP00000414281.2:n.341-1034_341-1033insAAAAAGGCACGGC
ENST00000457138.6:c.1551_1552insAAAAAGGCACGGC	ENSP00000392494.2:p.Arg518LysfsTer17
ENST00000478993.5:c.1599_1600insAAAAAGGCACGGC	ENSP00000478443.1:p.Arg534LysfsTer17
ENST00000611968.1:c.41_42insAAAAAGGCACGGC
ENST00000616050.2:c.152_153insAAAAAGGCACGGC
ENST00000625837.2:c.1599_1600insAAAAAGGCACGGC	ENSP00000486306.1:p.Arg534LysfsTer17
ENST00000626301.2:c.1599_1600insAAAAAGGCACGGC	ENSP00000486443.1:p.Arg534LysfsTer17
ENST00000629496.2:c.1599_1600insAAAAAGGCACGGC	ENSP00000487224.1:p.Arg534LysfsTer17
ENST00000629785.2:c.1599_1600insAAAAAGGCACGGC	ENSP00000486516.1:p.Arg534LysfsTer17
ENST00000630255.2:c.1599_1600insAAAAAGGCACGGC	ENSP00000486720.1:p.Arg534LysfsTer17
ENST00000630370.2:c.1599_1600insAAAAAGGCACGGC	ENSP00000487062.1:p.Arg534LysfsTer17
ENST00000630858.2:c.1599_1600insAAAAAGGCACGGC	ENSP00000486514.1:p.Arg534LysfsTer17
NM_001193416.2:c.1599_1600insAAAAAGGCACGGC	NP_001180345.1:p.Arg534LysfsTer17
NM_001193417.2:c.1551_1552insAAAAAGGCACGGC	NP_001180346.1:p.Arg518LysfsTer17
NM_001356.4:c.1599_1600insAAAAAGGCACGGC	NP_001347.3:p.Arg534LysfsTer17
NR_126093.1:n.2544_2545insAAAAAGGCACGGC
XM_011543892.1:c.1599_1600insAAAAAGGCACGGC	XP_011542194.1:p.Arg534LysfsTer17
NM_001363819.1:c.1041_1042insAAAAAGGCACGGC	NP_001350748.1:p.Arg348LysfsTer17
XM_011543892.2:c.1599_1600insAAAAAGGCACGGC	XP_011542194.1:p.Arg534LysfsTer17
XM_017029313.1:c.1041_1042insAAAAAGGCACGGC	XP_016884802.1:p.Arg348LysfsTer17
NM_001193416.3:c.1599_1600insAAAAAGGCACGGC	NP_001180345.1:p.Arg534LysfsTer17
NM_001193417.3:c.1551_1552insAAAAAGGCACGGC	NP_001180346.1:p.Arg518LysfsTer17
NM_001356.5:c.1599_1600insAAAAAGGCACGGC MANE Select	NP_001347.3:p.Arg534LysfsTer17