Canonical Allele Identifier: CA2538455672

Gene: DDX3X

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346609_41346618del , CM000685.2:g.41346609_41346618del	GRCh38
NC_000023.10:g.41205862_41205871del , CM000685.1:g.41205862_41205871del	GRCh37
NC_000023.9:g.41090806_41090815del	NCBI36
NG_012830.1:g.18212_18221del
NG_012830.2:g.18212_18221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1734_1743del	ENSP00000496052.2:p.Val579LeufsTer13
ENST00000399959.7:c.1599_1608del	ENSP00000382840.3:p.Val534LeufsTer13
ENST00000441189.4:c.1503_1512del	ENSP00000414281.3:p.Val502LeufsTer13
ENST00000457138.7:c.1554_1563del	ENSP00000392494.2:p.Val519LeufsTer13
ENST00000611968.2:c.196_205del
ENST00000616050.3:c.350_359del
ENST00000629496.3:c.1602_1611del	ENSP00000487224.1:p.Val535LeufsTer13
ENST00000642161.1:n.3801_3810del
ENST00000642322.1:c.1044_1053del	ENSP00000496052.1:p.Val349LeufsTer13
ENST00000642424.1:c.1044_1053del	ENSP00000496356.1:p.Val349LeufsTer13
ENST00000642589.1:n.4924_4933del
ENST00000642597.1:n.1776_1785del
ENST00000642687.1:n.1635_1644del
ENST00000642722.1:n.2435_2444del
ENST00000642763.1:n.2493_2502del
ENST00000642793.1:c.*1051_*1060del	ENSP00000493976.1:n.*1051_*1060del
ENST00000642801.1:n.1251_1260del
ENST00000643820.1:n.972_981del
ENST00000643963.1:c.*884_*893del	ENSP00000495264.1:n.*884_*893del
ENST00000644073.1:c.1560_1569del	ENSP00000493475.1:p.Val521LeufsTer13
ENST00000644074.1:c.1599_1608del	ENSP00000496663.1:p.Val534LeufsTer13
ENST00000644109.1:c.1764_1773del	ENSP00000494952.1:p.Val589LeufsTer13
ENST00000644307.1:n.1772_1781del
ENST00000644513.1:c.1602_1611del	ENSP00000493819.1:p.Val535LeufsTer13
ENST00000644677.1:c.1485_1494del	ENSP00000496524.1:p.Val496LeufsTer13
ENST00000644876.2:c.1602_1611del MANE Select	ENSP00000494040.1:p.Val535LeufsTer13
ENST00000644958.1:n.3263_3272del
ENST00000645080.1:c.*2824_*2833del	ENSP00000494767.1:n.*2824_*2833del
ENST00000645120.1:n.3097_3106del
ENST00000645338.1:n.1772_1781del
ENST00000645380.1:n.3066_3075del
ENST00000645561.1:n.2778_2787del
ENST00000645574.1:n.4466_4475del
ENST00000645589.1:c.*101_*110del	ENSP00000494588.1:n.*101_*110del
ENST00000646107.1:c.1485_1494del	ENSP00000494518.1:p.Val496LeufsTer13
ENST00000646122.1:c.1602_1611del	ENSP00000496222.1:p.Val535LeufsTer13
ENST00000646196.1:n.2571_2580del
ENST00000646223.1:c.*1595_*1604del	ENSP00000496043.1:n.*1595_*1604del
ENST00000646319.1:c.1602_1611del	ENSP00000495377.1:p.Val535LeufsTer13
ENST00000646390.1:n.3890_3899del
ENST00000646627.1:c.1044_1053del	ENSP00000493795.1:p.Val349LeufsTer13
ENST00000646679.1:c.1044_1053del	ENSP00000494887.1:p.Val349LeufsTer13
ENST00000646822.1:n.2664_2673del
ENST00000646940.1:n.1776_1785del
ENST00000647286.1:n.1700_1709del
ENST00000647477.1:n.341_350del
ENST00000399959.6:c.1602_1611del	ENSP00000382840.2:p.Val535LeufsTer13
ENST00000441189.3:c.341-1031_341-1022del	ENSP00000414281.2:n.341-1031_341-1022del
ENST00000457138.6:c.1554_1563del	ENSP00000392494.2:p.Val519LeufsTer13
ENST00000478993.5:c.1602_1611del	ENSP00000478443.1:p.Val535LeufsTer13
ENST00000611968.1:c.44_53del
ENST00000616050.2:c.155_164del
ENST00000625837.2:c.1602_1611del	ENSP00000486306.1:p.Val535LeufsTer13
ENST00000626301.2:c.1602_1611del	ENSP00000486443.1:p.Val535LeufsTer13
ENST00000629496.2:c.1602_1611del	ENSP00000487224.1:p.Val535LeufsTer13
ENST00000629785.2:c.1602_1611del	ENSP00000486516.1:p.Val535LeufsTer13
ENST00000630255.2:c.1602_1611del	ENSP00000486720.1:p.Val535LeufsTer13
ENST00000630370.2:c.1602_1611del	ENSP00000487062.1:p.Val535LeufsTer13
ENST00000630858.2:c.1602_1611del	ENSP00000486514.1:p.Val535LeufsTer13
NM_001193416.2:c.1602_1611del	NP_001180345.1:p.Val535LeufsTer13
NM_001193417.2:c.1554_1563del	NP_001180346.1:p.Val519LeufsTer13
NM_001356.4:c.1602_1611del	NP_001347.3:p.Val535LeufsTer13
NR_126093.1:n.2547_2556del
XM_011543892.1:c.1602_1611del	XP_011542194.1:p.Val535LeufsTer13
NM_001363819.1:c.1044_1053del	NP_001350748.1:p.Val349LeufsTer13
XM_011543892.2:c.1602_1611del	XP_011542194.1:p.Val535LeufsTer13
XM_017029313.1:c.1044_1053del	XP_016884802.1:p.Val349LeufsTer13
NM_001193416.3:c.1602_1611del	NP_001180345.1:p.Val535LeufsTer13
NM_001193417.3:c.1554_1563del	NP_001180346.1:p.Val519LeufsTer13
NM_001356.5:c.1602_1611del MANE Select	NP_001347.3:p.Val535LeufsTer13