Canonical Allele Identifier: CA16621386

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 419827
• ClinVar RCV Id: RCV000480376
• dbSNP Id: rs1064794133
• MyVariant Identifiers: chrX:g.41204692_41204694del (hg19) ; chrX:g.41345439_41345441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345439_41345441del , CM000685.2:g.41345439_41345441del	GRCh38
NC_000023.10:g.41204692_41204694del , CM000685.1:g.41204692_41204694del	GRCh37
NC_000023.9:g.41089636_41089638del	NCBI36
NG_012830.1:g.17042_17044del
NG_012830.2:g.17042_17044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1338_1340del	ENSP00000496052.2:p.Phe446del
ENST00000399959.7:c.1203_1205del	ENSP00000382840.3:p.Phe401del
ENST00000441189.4:c.1107_1109del	ENSP00000414281.3:p.Phe369del
ENST00000457138.7:c.1158_1160del	ENSP00000392494.2:p.Phe386del
ENST00000629496.3:c.1206_1208del	ENSP00000487224.1:p.Phe402del
ENST00000642161.1:n.3405_3407del
ENST00000642322.1:c.648_650del	ENSP00000496052.1:p.Phe216del
ENST00000642424.1:c.648_650del	ENSP00000496356.1:p.Phe216del
ENST00000642589.1:n.4528_4530del
ENST00000642597.1:n.1380_1382del
ENST00000642687.1:n.1239_1241del
ENST00000642722.1:n.2039_2041del
ENST00000642763.1:n.2097_2099del
ENST00000642793.1:c.*655_*657del	ENSP00000493976.1:n.*655_*657del
ENST00000642801.1:n.855_857del
ENST00000643820.1:n.482_484del
ENST00000643963.1:c.*488_*490del	ENSP00000495264.1:n.*488_*490del
ENST00000644073.1:c.1164_1166del	ENSP00000493475.1:p.Phe388del
ENST00000644074.1:c.1203_1205del	ENSP00000496663.1:p.Phe401del
ENST00000644109.1:c.1368_1370del	ENSP00000494952.1:p.Phe456del
ENST00000644307.1:n.1376_1378del
ENST00000644513.1:c.1206_1208del	ENSP00000493819.1:p.Phe402del
ENST00000644677.1:c.1089_1091del	ENSP00000496524.1:p.Phe363del
ENST00000644876.2:c.1206_1208del MANE Select	ENSP00000494040.1:p.Phe402del
ENST00000644958.1:n.2867_2869del
ENST00000645080.1:c.*2428_*2430del	ENSP00000494767.1:n.*2428_*2430del
ENST00000645120.1:n.2701_2703del
ENST00000645338.1:n.1376_1378del
ENST00000645380.1:n.2670_2672del
ENST00000645561.1:n.2382_2384del
ENST00000645574.1:n.4070_4072del
ENST00000645589.1:c.1206_1208del	ENSP00000494588.1:p.Phe402del
ENST00000646093.1:n.390_392del
ENST00000646107.1:c.1089_1091del	ENSP00000494518.1:p.Phe363del
ENST00000646122.1:c.1206_1208del	ENSP00000496222.1:p.Phe402del
ENST00000646196.1:n.2175_2177del
ENST00000646223.1:c.*1199_*1201del	ENSP00000496043.1:n.*1199_*1201del
ENST00000646319.1:c.1206_1208del	ENSP00000495377.1:p.Phe402del
ENST00000646390.1:n.3494_3496del
ENST00000646627.1:c.648_650del	ENSP00000493795.1:p.Phe216del
ENST00000646679.1:c.648_650del	ENSP00000494887.1:p.Phe216del
ENST00000646822.1:n.2268_2270del
ENST00000646940.1:n.1380_1382del
ENST00000647286.1:n.1304_1306del
ENST00000399959.6:c.1206_1208del	ENSP00000382840.2:p.Phe402del
ENST00000441189.3:c.341-2201_341-2199del	ENSP00000414281.2:n.341-2201_341-2199del
ENST00000457138.6:c.1158_1160del	ENSP00000392494.2:p.Phe386del
ENST00000478993.5:c.1206_1208del	ENSP00000478443.1:p.Phe402del
ENST00000542215.5:n.1254_1256del
ENST00000625837.2:c.1206_1208del	ENSP00000486306.1:p.Phe402del
ENST00000626301.2:c.1206_1208del	ENSP00000486443.1:p.Phe402del
ENST00000629496.2:c.1206_1208del	ENSP00000487224.1:p.Phe402del
ENST00000629785.2:c.1206_1208del	ENSP00000486516.1:p.Phe402del
ENST00000630255.2:c.1206_1208del	ENSP00000486720.1:p.Phe402del
ENST00000630370.2:c.1206_1208del	ENSP00000487062.1:p.Phe402del
ENST00000630858.2:c.1206_1208del	ENSP00000486514.1:p.Phe402del
NM_001193416.2:c.1206_1208del	NP_001180345.1:p.Phe402del
NM_001193417.2:c.1158_1160del	NP_001180346.1:p.Phe386del
NM_001356.4:c.1206_1208del	NP_001347.3:p.Phe402del
NR_126093.1:n.2151_2153del
XM_011543892.1:c.1206_1208del	XP_011542194.1:p.Phe402del
NM_001363819.1:c.648_650del	NP_001350748.1:p.Phe216del
XM_011543892.2:c.1206_1208del	XP_011542194.1:p.Phe402del
XM_017029313.1:c.648_650del	XP_016884802.1:p.Phe216del
NM_001193416.3:c.1206_1208del	NP_001180345.1:p.Phe402del
NM_001193417.3:c.1158_1160del	NP_001180346.1:p.Phe386del
NM_001356.5:c.1206_1208del MANE Select	NP_001347.3:p.Phe402del