Canonical Allele Identifier: CA2517839302
Gene: DDX3X HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346609_41346610insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG , CM000685.2:g.41346609_41346610insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG GRCh38
NC_000023.10:g.41205862_41205863insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG , CM000685.1:g.41205862_41205863insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG GRCh37
NC_000023.9:g.41090806_41090807insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG NCBI36
NG_012830.1:g.18212_18213insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
NG_012830.2:g.18212_18213insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000642322.2:c.1734_1735insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000496052.2:p.Val579PhefsTer4
ENST00000399959.7:c.1599_1600insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000382840.3:p.Val534PhefsTer4
ENST00000441189.4:c.1503_1504insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000414281.3:p.Val502PhefsTer4
ENST00000457138.7:c.1554_1555insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000392494.2:p.Val519PhefsTer4
ENST00000611968.2:c.196_197insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000616050.3:c.350_351insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000629496.3:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000487224.1:p.Val535PhefsTer4
ENST00000642161.1:n.3801_3802insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000642322.1:c.1044_1045insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000496052.1:p.Val349PhefsTer4
ENST00000642424.1:c.1044_1045insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000496356.1:p.Val349PhefsTer4
ENST00000642589.1:n.4924_4925insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000642597.1:n.1776_1777insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000642687.1:n.1635_1636insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000642722.1:n.2435_2436insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000642763.1:n.2493_2494insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000642793.1:c.*1051_*1052insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000493976.1:n.*1051_*1052insTTCTTTTGTTGAAGCCCATGATTACAA...
ENST00000642801.1:n.1251_1252insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000643820.1:n.972_973insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000643963.1:c.*884_*885insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000495264.1:n.*884_*885insTTCTTTTGTTGAAGCCCATGATTACAAAT...
ENST00000644073.1:c.1560_1561insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000493475.1:p.Val521PhefsTer4
ENST00000644074.1:c.1599_1600insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000496663.1:p.Val534PhefsTer4
ENST00000644109.1:c.1764_1765insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000494952.1:p.Val589PhefsTer4
ENST00000644307.1:n.1772_1773insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000644513.1:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000493819.1:p.Val535PhefsTer4
ENST00000644677.1:c.1485_1486insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000496524.1:p.Val496PhefsTer4
ENST00000644876.2:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG MANE Select ENSP00000494040.1:p.Val535PhefsTer4
ENST00000644958.1:n.3263_3264insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000645080.1:c.*2824_*2825insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000494767.1:n.*2824_*2825insTTCTTTTGTTGAAGCCCATGATTACAA...
ENST00000645120.1:n.3097_3098insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000645338.1:n.1772_1773insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000645380.1:n.3066_3067insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000645561.1:n.2778_2779insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000645574.1:n.4466_4467insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000645589.1:c.*101_*102insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000494588.1:n.*101_*102insTTCTTTTGTTGAAGCCCATGATTACAAAT...
ENST00000646107.1:c.1485_1486insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000494518.1:p.Val496PhefsTer4
ENST00000646122.1:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000496222.1:p.Val535PhefsTer4
ENST00000646196.1:n.2571_2572insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000646223.1:c.*1595_*1596insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000496043.1:n.*1595_*1596insTTCTTTTGTTGAAGCCCATGATTACAA...
ENST00000646319.1:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000495377.1:p.Val535PhefsTer4
ENST00000646390.1:n.3890_3891insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000646627.1:c.1044_1045insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000493795.1:p.Val349PhefsTer4
ENST00000646679.1:c.1044_1045insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000494887.1:p.Val349PhefsTer4
ENST00000646822.1:n.2664_2665insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000646940.1:n.1776_1777insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000647286.1:n.1700_1701insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000647477.1:n.341_342insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000399959.6:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000382840.2:p.Val535PhefsTer4
ENST00000441189.3:c.341-1031_341-1030insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000414281.2:n.341-1031_341-1030insTTCTTTTGTTGAAGCCCATGA...
ENST00000457138.6:c.1554_1555insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000392494.2:p.Val519PhefsTer4
ENST00000478993.5:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000478443.1:p.Val535PhefsTer4
ENST00000611968.1:c.44_45insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000616050.2:c.155_156insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
ENST00000625837.2:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000486306.1:p.Val535PhefsTer4
ENST00000626301.2:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000486443.1:p.Val535PhefsTer4
ENST00000629496.2:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000487224.1:p.Val535PhefsTer4
ENST00000629785.2:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000486516.1:p.Val535PhefsTer4
ENST00000630255.2:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000486720.1:p.Val535PhefsTer4
ENST00000630370.2:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000487062.1:p.Val535PhefsTer4
ENST00000630858.2:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG ENSP00000486514.1:p.Val535PhefsTer4
NM_001193416.2:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG NP_001180345.1:p.Val535PhefsTer4
NM_001193417.2:c.1554_1555insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG NP_001180346.1:p.Val519PhefsTer4
NM_001356.4:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG NP_001347.3:p.Val535PhefsTer4
NR_126093.1:n.2547_2548insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG
XM_011543892.1:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG XP_011542194.1:p.Val535PhefsTer4
NM_001363819.1:c.1044_1045insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG NP_001350748.1:p.Val349PhefsTer4
XM_011543892.2:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG XP_011542194.1:p.Val535PhefsTer4
XM_017029313.1:c.1044_1045insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG XP_016884802.1:p.Val349PhefsTer4
NM_001193416.3:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG NP_001180345.1:p.Val535PhefsTer4
NM_001193417.3:c.1554_1555insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG NP_001180346.1:p.Val519PhefsTer4
NM_001356.5:c.1602_1603insTTCTTTTGTTGAAGCCCATGATTACAAATTGCTCG MANE Select NP_001347.3:p.Val535PhefsTer4