Canonical Allele Identifier: CA645509420

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 438285
• ClinVar RCV Id: RCV000505208 ; RCV001420280
• dbSNP Id: rs1555953819
• MyVariant Identifiers: chrX:g.41204506dup (hg19) ; chrX:g.41345253dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345253dup , CM000685.2:g.41345253dup	GRCh38
NC_000023.10:g.41204506dup , CM000685.1:g.41204506dup	GRCh37
NC_000023.9:g.41089450dup	NCBI36
NG_012830.1:g.16856dup
NG_012830.2:g.16856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1231dup	ENSP00000496052.2:p.Gln411ProfsTer16
ENST00000399959.7:c.1096dup	ENSP00000382840.3:p.Gln366ProfsTer16
ENST00000441189.4:c.1000dup	ENSP00000414281.3:p.Gln334ProfsTer16
ENST00000457138.7:c.1051dup	ENSP00000392494.2:p.Gln351ProfsTer16
ENST00000629496.3:c.1099dup	ENSP00000487224.1:p.Gln367ProfsTer16
ENST00000642161.1:n.3298dup
ENST00000642322.1:c.541dup	ENSP00000496052.1:p.Gln181ProfsTer16
ENST00000642424.1:c.541dup	ENSP00000496356.1:p.Gln181ProfsTer16
ENST00000642589.1:n.4421dup
ENST00000642597.1:n.1273dup
ENST00000642687.1:n.1132dup
ENST00000642722.1:n.1932dup
ENST00000642763.1:n.1990dup
ENST00000642793.1:c.*548dup	ENSP00000493976.1:n.*548dup
ENST00000642801.1:n.748dup
ENST00000643820.1:n.375dup
ENST00000643963.1:c.*381dup	ENSP00000495264.1:n.*381dup
ENST00000644073.1:c.1057dup	ENSP00000493475.1:p.Gln353ProfsTer16
ENST00000644074.1:c.1096dup	ENSP00000496663.1:p.Gln366ProfsTer16
ENST00000644109.1:c.1261dup	ENSP00000494952.1:p.Gln421ProfsTer16
ENST00000644307.1:n.1190dup
ENST00000644513.1:c.1099dup	ENSP00000493819.1:p.Gln367ProfsTer16
ENST00000644677.1:c.982dup	ENSP00000496524.1:p.Gln328ProfsTer16
ENST00000644876.2:c.1099dup MANE Select	ENSP00000494040.1:p.Gln367ProfsTer16
ENST00000644958.1:n.2760dup
ENST00000645080.1:c.*2321dup	ENSP00000494767.1:n.*2321dup
ENST00000645120.1:n.2594dup
ENST00000645338.1:n.1190dup
ENST00000645380.1:n.2484dup
ENST00000645561.1:n.2275dup
ENST00000645574.1:n.3963dup
ENST00000645589.1:c.1099dup	ENSP00000494588.1:p.Gln367ProfsTer16
ENST00000646093.1:n.283dup
ENST00000646107.1:c.982dup	ENSP00000494518.1:p.Gln328ProfsTer16
ENST00000646122.1:c.1099dup	ENSP00000496222.1:p.Gln367ProfsTer16
ENST00000646196.1:n.2068dup
ENST00000646223.1:c.*1092dup	ENSP00000496043.1:n.*1092dup
ENST00000646319.1:c.1099dup	ENSP00000495377.1:p.Gln367ProfsTer16
ENST00000646390.1:n.3387dup
ENST00000646627.1:c.541dup	ENSP00000493795.1:p.Gln181ProfsTer16
ENST00000646679.1:c.541dup	ENSP00000494887.1:p.Gln181ProfsTer16
ENST00000646822.1:n.2161dup
ENST00000646940.1:n.1273dup
ENST00000647286.1:n.1197dup
ENST00000399959.6:c.1099dup	ENSP00000382840.2:p.Gln367ProfsTer16
ENST00000441189.3:c.341-2387dup	ENSP00000414281.2:n.341-2387dup
ENST00000457138.6:c.1051dup	ENSP00000392494.2:p.Gln351ProfsTer16
ENST00000478993.5:c.1099dup	ENSP00000478443.1:p.Gln367ProfsTer16
ENST00000542215.5:n.1147dup
ENST00000625837.2:c.1099dup	ENSP00000486306.1:p.Gln367ProfsTer16
ENST00000626301.2:c.1099dup	ENSP00000486443.1:p.Gln367ProfsTer16
ENST00000629496.2:c.1099dup	ENSP00000487224.1:p.Gln367ProfsTer16
ENST00000629785.2:c.1099dup	ENSP00000486516.1:p.Gln367ProfsTer16
ENST00000630255.2:c.1099dup	ENSP00000486720.1:p.Gln367ProfsTer16
ENST00000630370.2:c.1099dup	ENSP00000487062.1:p.Gln367ProfsTer16
ENST00000630858.2:c.1099dup	ENSP00000486514.1:p.Gln367ProfsTer16
NM_001193416.2:c.1099dup	NP_001180345.1:p.Gln367ProfsTer16
NM_001193417.2:c.1051dup	NP_001180346.1:p.Gln351ProfsTer16
NM_001356.4:c.1099dup	NP_001347.3:p.Gln367ProfsTer16
NR_126093.1:n.2044dup
XM_011543892.1:c.1099dup	XP_011542194.1:p.Gln367ProfsTer16
NM_001363819.1:c.541dup	NP_001350748.1:p.Gln181ProfsTer16
XM_011543892.2:c.1099dup	XP_011542194.1:p.Gln367ProfsTer16
XM_017029313.1:c.541dup	XP_016884802.1:p.Gln181ProfsTer16
NM_001193416.3:c.1099dup	NP_001180345.1:p.Gln367ProfsTer16
NM_001193417.3:c.1051dup	NP_001180346.1:p.Gln351ProfsTer16
NM_001356.5:c.1099dup MANE Select	NP_001347.3:p.Gln367ProfsTer16