Canonical Allele Identifier: CA319635
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 207812
dbSNP Id: rs796052230

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346542_41346543del , CM000685.2:g.41346542_41346543del GRCh38
NC_000023.10:g.41205795_41205796del , CM000685.1:g.41205795_41205796del GRCh37
NC_000023.9:g.41090739_41090740del NCBI36
NG_012830.1:g.18145_18146del
NG_012830.2:g.18145_18146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642322.2:c.1667_1668del ENSP00000496052.2:p.His556ArgfsTer5
ENST00000399959.7:c.1532_1533del ENSP00000382840.3:p.His511ArgfsTer5
ENST00000441189.4:c.1436_1437del ENSP00000414281.3:p.His479ArgfsTer5
ENST00000457138.7:c.1487_1488del ENSP00000392494.2:p.His496ArgfsTer5
ENST00000611968.2:c.129_130del
ENST00000616050.3:c.283_284del
ENST00000629496.3:c.1535_1536del ENSP00000487224.1:p.His512ArgfsTer5
ENST00000642161.1:n.3734_3735del
ENST00000642322.1:c.977_978del ENSP00000496052.1:p.His326ArgfsTer5
ENST00000642424.1:c.977_978del ENSP00000496356.1:p.His326ArgfsTer5
ENST00000642589.1:n.4857_4858del
ENST00000642597.1:n.1709_1710del
ENST00000642687.1:n.1568_1569del
ENST00000642722.1:n.2368_2369del
ENST00000642763.1:n.2426_2427del
ENST00000642793.1:c.*984_*985del ENSP00000493976.1:n.*984_*985del
ENST00000642801.1:n.1184_1185del
ENST00000643820.1:n.905_906del
ENST00000643963.1:c.*817_*818del ENSP00000495264.1:n.*817_*818del
ENST00000644073.1:c.1493_1494del ENSP00000493475.1:p.His498ArgfsTer5
ENST00000644074.1:c.1532_1533del ENSP00000496663.1:p.His511ArgfsTer5
ENST00000644109.1:c.1697_1698del ENSP00000494952.1:p.His566ArgfsTer5
ENST00000644307.1:n.1705_1706del
ENST00000644513.1:c.1535_1536del ENSP00000493819.1:p.His512ArgfsTer5
ENST00000644677.1:c.1418_1419del ENSP00000496524.1:p.His473ArgfsTer5
ENST00000644876.2:c.1535_1536del MANE Select ENSP00000494040.1:p.His512ArgfsTer5
ENST00000644958.1:n.3196_3197del
ENST00000645080.1:c.*2757_*2758del ENSP00000494767.1:n.*2757_*2758del
ENST00000645120.1:n.3030_3031del
ENST00000645338.1:n.1705_1706del
ENST00000645380.1:n.2999_3000del
ENST00000645561.1:n.2711_2712del
ENST00000645574.1:n.4399_4400del
ENST00000645589.1:c.*34_*35del ENSP00000494588.1:n.*34_*35del
ENST00000646107.1:c.1418_1419del ENSP00000494518.1:p.His473ArgfsTer5
ENST00000646122.1:c.1535_1536del ENSP00000496222.1:p.His512ArgfsTer5
ENST00000646196.1:n.2504_2505del
ENST00000646223.1:c.*1528_*1529del ENSP00000496043.1:n.*1528_*1529del
ENST00000646319.1:c.1535_1536del ENSP00000495377.1:p.His512ArgfsTer5
ENST00000646390.1:n.3823_3824del
ENST00000646627.1:c.977_978del ENSP00000493795.1:p.His326ArgfsTer5
ENST00000646679.1:c.977_978del ENSP00000494887.1:p.His326ArgfsTer5
ENST00000646822.1:n.2597_2598del
ENST00000646940.1:n.1709_1710del
ENST00000647286.1:n.1633_1634del
ENST00000647477.1:n.274_275del
ENST00000399959.6:c.1535_1536del ENSP00000382840.2:p.His512ArgfsTer5
ENST00000441189.3:c.341-1098_341-1097del ENSP00000414281.2:n.341-1098_341-1097del
ENST00000457138.6:c.1487_1488del ENSP00000392494.2:p.His496ArgfsTer5
ENST00000478993.5:c.1535_1536del ENSP00000478443.1:p.His512ArgfsTer5
ENST00000542215.5:n.1583_1584del
ENST00000616050.2:c.88_89del
ENST00000625837.2:c.1535_1536del ENSP00000486306.1:p.His512ArgfsTer5
ENST00000626301.2:c.1535_1536del ENSP00000486443.1:p.His512ArgfsTer5
ENST00000629496.2:c.1535_1536del ENSP00000487224.1:p.His512ArgfsTer5
ENST00000629785.2:c.1535_1536del ENSP00000486516.1:p.His512ArgfsTer5
ENST00000630255.2:c.1535_1536del ENSP00000486720.1:p.His512ArgfsTer5
ENST00000630370.2:c.1535_1536del ENSP00000487062.1:p.His512ArgfsTer5
ENST00000630858.2:c.1535_1536del ENSP00000486514.1:p.His512ArgfsTer5
NM_001193416.2:c.1535_1536del NP_001180345.1:p.His512ArgfsTer5
NM_001193417.2:c.1487_1488del NP_001180346.1:p.His496ArgfsTer5
NM_001356.4:c.1535_1536del NP_001347.3:p.His512ArgfsTer5
NR_126093.1:n.2480_2481del
XM_011543892.1:c.1535_1536del XP_011542194.1:p.His512ArgfsTer5
NM_001363819.1:c.977_978del NP_001350748.1:p.His326ArgfsTer5
XM_011543892.2:c.1535_1536del XP_011542194.1:p.His512ArgfsTer5
XM_017029313.1:c.977_978del XP_016884802.1:p.His326ArgfsTer5
NM_001193416.3:c.1535_1536del NP_001180345.1:p.His512ArgfsTer5
NM_001193417.3:c.1487_1488del NP_001180346.1:p.His496ArgfsTer5
NM_001356.5:c.1535_1536del MANE Select NP_001347.3:p.His512ArgfsTer5