Canonical Allele Identifier: CA1139667464

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 981368
• ClinVar RCV Id: RCV001260758 ; RCV002537610
• dbSNP Id: rs2063927827

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346544_41346548del , CM000685.2:g.41346544_41346548del	GRCh38
NC_000023.10:g.41205797_41205801del , CM000685.1:g.41205797_41205801del	GRCh37
NC_000023.9:g.41090741_41090745del	NCBI36
NG_012830.1:g.18147_18151del
NG_012830.2:g.18147_18151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1669_1673del	ENSP00000496052.2:p.Val557GlnfsTer3
ENST00000399959.7:c.1534_1538del	ENSP00000382840.3:p.Val512GlnfsTer3
ENST00000441189.4:c.1438_1442del	ENSP00000414281.3:p.Val480GlnfsTer3
ENST00000457138.7:c.1489_1493del	ENSP00000392494.2:p.Val497GlnfsTer3
ENST00000611968.2:c.131_135del
ENST00000616050.3:c.285_289del
ENST00000629496.3:c.1537_1541del	ENSP00000487224.1:p.Val513GlnfsTer3
ENST00000642161.1:n.3736_3740del
ENST00000642322.1:c.979_983del	ENSP00000496052.1:p.Val327GlnfsTer3
ENST00000642424.1:c.979_983del	ENSP00000496356.1:p.Val327GlnfsTer3
ENST00000642589.1:n.4859_4863del
ENST00000642597.1:n.1711_1715del
ENST00000642687.1:n.1570_1574del
ENST00000642722.1:n.2370_2374del
ENST00000642763.1:n.2428_2432del
ENST00000642793.1:c.*986_*990del	ENSP00000493976.1:n.*986_*990del
ENST00000642801.1:n.1186_1190del
ENST00000643820.1:n.907_911del
ENST00000643963.1:c.*819_*823del	ENSP00000495264.1:n.*819_*823del
ENST00000644073.1:c.1495_1499del	ENSP00000493475.1:p.Val499GlnfsTer3
ENST00000644074.1:c.1534_1538del	ENSP00000496663.1:p.Val512GlnfsTer3
ENST00000644109.1:c.1699_1703del	ENSP00000494952.1:p.Val567GlnfsTer3
ENST00000644307.1:n.1707_1711del
ENST00000644513.1:c.1537_1541del	ENSP00000493819.1:p.Val513GlnfsTer3
ENST00000644677.1:c.1420_1424del	ENSP00000496524.1:p.Val474GlnfsTer3
ENST00000644876.2:c.1537_1541del MANE Select	ENSP00000494040.1:p.Val513GlnfsTer3
ENST00000644958.1:n.3198_3202del
ENST00000645080.1:c.*2759_*2763del	ENSP00000494767.1:n.*2759_*2763del
ENST00000645120.1:n.3032_3036del
ENST00000645338.1:n.1707_1711del
ENST00000645380.1:n.3001_3005del
ENST00000645561.1:n.2713_2717del
ENST00000645574.1:n.4401_4405del
ENST00000645589.1:c.*36_*40del	ENSP00000494588.1:n.*36_*40del
ENST00000646107.1:c.1420_1424del	ENSP00000494518.1:p.Val474GlnfsTer3
ENST00000646122.1:c.1537_1541del	ENSP00000496222.1:p.Val513GlnfsTer3
ENST00000646196.1:n.2506_2510del
ENST00000646223.1:c.*1530_*1534del	ENSP00000496043.1:n.*1530_*1534del
ENST00000646319.1:c.1537_1541del	ENSP00000495377.1:p.Val513GlnfsTer3
ENST00000646390.1:n.3825_3829del
ENST00000646627.1:c.979_983del	ENSP00000493795.1:p.Val327GlnfsTer3
ENST00000646679.1:c.979_983del	ENSP00000494887.1:p.Val327GlnfsTer3
ENST00000646822.1:n.2599_2603del
ENST00000646940.1:n.1711_1715del
ENST00000647286.1:n.1635_1639del
ENST00000647477.1:n.276_280del
ENST00000399959.6:c.1537_1541del	ENSP00000382840.2:p.Val513GlnfsTer3
ENST00000441189.3:c.341-1096_341-1092del	ENSP00000414281.2:n.341-1096_341-1092del
ENST00000457138.6:c.1489_1493del	ENSP00000392494.2:p.Val497GlnfsTer3
ENST00000478993.5:c.1537_1541del	ENSP00000478443.1:p.Val513GlnfsTer3
ENST00000542215.5:n.1585_1589del
ENST00000616050.2:c.90_94del
ENST00000625837.2:c.1537_1541del	ENSP00000486306.1:p.Val513GlnfsTer3
ENST00000626301.2:c.1537_1541del	ENSP00000486443.1:p.Val513GlnfsTer3
ENST00000629496.2:c.1537_1541del	ENSP00000487224.1:p.Val513GlnfsTer3
ENST00000629785.2:c.1537_1541del	ENSP00000486516.1:p.Val513GlnfsTer3
ENST00000630255.2:c.1537_1541del	ENSP00000486720.1:p.Val513GlnfsTer3
ENST00000630370.2:c.1537_1541del	ENSP00000487062.1:p.Val513GlnfsTer3
ENST00000630858.2:c.1537_1541del	ENSP00000486514.1:p.Val513GlnfsTer3
NM_001193416.2:c.1537_1541del	NP_001180345.1:p.Val513GlnfsTer3
NM_001193417.2:c.1489_1493del	NP_001180346.1:p.Val497GlnfsTer3
NM_001356.4:c.1537_1541del	NP_001347.3:p.Val513GlnfsTer3
NR_126093.1:n.2482_2486del
XM_011543892.1:c.1537_1541del	XP_011542194.1:p.Val513GlnfsTer3
NM_001363819.1:c.979_983del	NP_001350748.1:p.Val327GlnfsTer3
XM_011543892.2:c.1537_1541del	XP_011542194.1:p.Val513GlnfsTer3
XM_017029313.1:c.979_983del	XP_016884802.1:p.Val327GlnfsTer3
NM_001193416.3:c.1537_1541del	NP_001180345.1:p.Val513GlnfsTer3
NM_001193417.3:c.1489_1493del	NP_001180346.1:p.Val497GlnfsTer3
NM_001356.5:c.1537_1541del MANE Select	NP_001347.3:p.Val513GlnfsTer3