Canonical Allele Identifier: CA2573158704

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1685691
• ClinVar RCV Id: RCV002249858
• dbSNP Id: rs2147356723

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345497_41345500del , CM000685.2:g.41345497_41345500del	GRCh38
NC_000023.10:g.41204750_41204753del , CM000685.1:g.41204750_41204753del	GRCh37
NC_000023.9:g.41089694_41089697del	NCBI36
NG_012830.1:g.17100_17103del
NG_012830.2:g.17100_17103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1396_1399del	ENSP00000496052.2:p.Val466LysfsTer13
ENST00000399959.7:c.1261_1264del	ENSP00000382840.3:p.Val421LysfsTer13
ENST00000441189.4:c.1165_1168del	ENSP00000414281.3:p.Val389LysfsTer13
ENST00000457138.7:c.1216_1219del	ENSP00000392494.2:p.Val406LysfsTer13
ENST00000616050.3:c.12_15del
ENST00000629496.3:c.1264_1267del	ENSP00000487224.1:p.Val422LysfsTer13
ENST00000642161.1:n.3463_3466del
ENST00000642322.1:c.706_709del	ENSP00000496052.1:p.Val236LysfsTer13
ENST00000642424.1:c.706_709del	ENSP00000496356.1:p.Val236LysfsTer13
ENST00000642589.1:n.4586_4589del
ENST00000642597.1:n.1438_1441del
ENST00000642687.1:n.1297_1300del
ENST00000642722.1:n.2097_2100del
ENST00000642763.1:n.2155_2158del
ENST00000642793.1:c.*713_*716del	ENSP00000493976.1:n.*713_*716del
ENST00000642801.1:n.913_916del
ENST00000643820.1:n.540_543del
ENST00000643963.1:c.*546_*549del	ENSP00000495264.1:n.*546_*549del
ENST00000644073.1:c.1222_1225del	ENSP00000493475.1:p.Val408LysfsTer13
ENST00000644074.1:c.1261_1264del	ENSP00000496663.1:p.Val421LysfsTer13
ENST00000644109.1:c.1426_1429del	ENSP00000494952.1:p.Val476LysfsTer13
ENST00000644307.1:n.1434_1437del
ENST00000644513.1:c.1264_1267del	ENSP00000493819.1:p.Val422LysfsTer13
ENST00000644677.1:c.1147_1150del	ENSP00000496524.1:p.Val383LysfsTer13
ENST00000644876.2:c.1264_1267del MANE Select	ENSP00000494040.1:p.Val422LysfsTer13
ENST00000644958.1:n.2925_2928del
ENST00000645080.1:c.*2486_*2489del	ENSP00000494767.1:n.*2486_*2489del
ENST00000645120.1:n.2759_2762del
ENST00000645338.1:n.1434_1437del
ENST00000645380.1:n.2728_2731del
ENST00000645561.1:n.2440_2443del
ENST00000645574.1:n.4128_4131del
ENST00000645589.1:c.1264_1267del	ENSP00000494588.1:p.Val422LysfsTer13
ENST00000646093.1:n.448_451del
ENST00000646107.1:c.1147_1150del	ENSP00000494518.1:p.Val383LysfsTer13
ENST00000646122.1:c.1264_1267del	ENSP00000496222.1:p.Val422LysfsTer13
ENST00000646196.1:n.2233_2236del
ENST00000646223.1:c.*1257_*1260del	ENSP00000496043.1:n.*1257_*1260del
ENST00000646319.1:c.1264_1267del	ENSP00000495377.1:p.Val422LysfsTer13
ENST00000646390.1:n.3552_3555del
ENST00000646627.1:c.706_709del	ENSP00000493795.1:p.Val236LysfsTer13
ENST00000646679.1:c.706_709del	ENSP00000494887.1:p.Val236LysfsTer13
ENST00000646822.1:n.2326_2329del
ENST00000646940.1:n.1438_1441del
ENST00000647286.1:n.1362_1365del
ENST00000399959.6:c.1264_1267del	ENSP00000382840.2:p.Val422LysfsTer13
ENST00000441189.3:c.341-2143_341-2140del	ENSP00000414281.2:n.341-2143_341-2140del
ENST00000457138.6:c.1216_1219del	ENSP00000392494.2:p.Val406LysfsTer13
ENST00000478993.5:c.1264_1267del	ENSP00000478443.1:p.Val422LysfsTer13
ENST00000542215.5:n.1312_1315del
ENST00000625837.2:c.1264_1267del	ENSP00000486306.1:p.Val422LysfsTer13
ENST00000626301.2:c.1264_1267del	ENSP00000486443.1:p.Val422LysfsTer13
ENST00000629496.2:c.1264_1267del	ENSP00000487224.1:p.Val422LysfsTer13
ENST00000629785.2:c.1264_1267del	ENSP00000486516.1:p.Val422LysfsTer13
ENST00000630255.2:c.1264_1267del	ENSP00000486720.1:p.Val422LysfsTer13
ENST00000630370.2:c.1264_1267del	ENSP00000487062.1:p.Val422LysfsTer13
ENST00000630858.2:c.1264_1267del	ENSP00000486514.1:p.Val422LysfsTer13
NM_001193416.2:c.1264_1267del	NP_001180345.1:p.Val422LysfsTer13
NM_001193417.2:c.1216_1219del	NP_001180346.1:p.Val406LysfsTer13
NM_001356.4:c.1264_1267del	NP_001347.3:p.Val422LysfsTer13
NR_126093.1:n.2209_2212del
XM_011543892.1:c.1264_1267del	XP_011542194.1:p.Val422LysfsTer13
NM_001363819.1:c.706_709del	NP_001350748.1:p.Val236LysfsTer13
XM_011543892.2:c.1264_1267del	XP_011542194.1:p.Val422LysfsTer13
XM_017029313.1:c.706_709del	XP_016884802.1:p.Val236LysfsTer13
NM_001193416.3:c.1264_1267del	NP_001180345.1:p.Val422LysfsTer13
NM_001193417.3:c.1216_1219del	NP_001180346.1:p.Val406LysfsTer13
NM_001356.5:c.1264_1267del MANE Select	NP_001347.3:p.Val422LysfsTer13