Canonical Allele Identifier: CA658799714

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 521145
• ClinVar RCV Id: RCV000624510
• dbSNP Id: rs1555954287
• MyVariant Identifiers: chrX:g.41205861dup (hg19) ; chrX:g.41346608dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346608dup , CM000685.2:g.41346608dup	GRCh38
NC_000023.10:g.41205861dup , CM000685.1:g.41205861dup	GRCh37
NC_000023.9:g.41090805dup	NCBI36
NG_012830.1:g.18211dup
NG_012830.2:g.18211dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1733dup	ENSP00000496052.2:p.Val579CysfsTer12
ENST00000399959.7:c.1598dup	ENSP00000382840.3:p.Val534CysfsTer12
ENST00000441189.4:c.1502dup	ENSP00000414281.3:p.Val502CysfsTer12
ENST00000457138.7:c.1553dup	ENSP00000392494.2:p.Val519CysfsTer12
ENST00000611968.2:c.195dup
ENST00000616050.3:c.349dup
ENST00000629496.3:c.1601dup	ENSP00000487224.1:p.Val535CysfsTer12
ENST00000642161.1:n.3800dup
ENST00000642322.1:c.1043dup	ENSP00000496052.1:p.Val349CysfsTer12
ENST00000642424.1:c.1043dup	ENSP00000496356.1:p.Val349CysfsTer12
ENST00000642589.1:n.4923dup
ENST00000642597.1:n.1775dup
ENST00000642687.1:n.1634dup
ENST00000642722.1:n.2434dup
ENST00000642763.1:n.2492dup
ENST00000642793.1:c.*1050dup	ENSP00000493976.1:n.*1050dup
ENST00000642801.1:n.1250dup
ENST00000643820.1:n.971dup
ENST00000643963.1:c.*883dup	ENSP00000495264.1:n.*883dup
ENST00000644073.1:c.1559dup	ENSP00000493475.1:p.Val521CysfsTer12
ENST00000644074.1:c.1598dup	ENSP00000496663.1:p.Val534CysfsTer12
ENST00000644109.1:c.1763dup	ENSP00000494952.1:p.Val589CysfsTer12
ENST00000644307.1:n.1771dup
ENST00000644513.1:c.1601dup	ENSP00000493819.1:p.Val535CysfsTer12
ENST00000644677.1:c.1484dup	ENSP00000496524.1:p.Val496CysfsTer12
ENST00000644876.2:c.1601dup MANE Select	ENSP00000494040.1:p.Val535CysfsTer12
ENST00000644958.1:n.3262dup
ENST00000645080.1:c.*2823dup	ENSP00000494767.1:n.*2823dup
ENST00000645120.1:n.3096dup
ENST00000645338.1:n.1771dup
ENST00000645380.1:n.3065dup
ENST00000645561.1:n.2777dup
ENST00000645574.1:n.4465dup
ENST00000645589.1:c.*100dup	ENSP00000494588.1:n.*100dup
ENST00000646107.1:c.1484dup	ENSP00000494518.1:p.Val496CysfsTer12
ENST00000646122.1:c.1601dup	ENSP00000496222.1:p.Val535CysfsTer12
ENST00000646196.1:n.2570dup
ENST00000646223.1:c.*1594dup	ENSP00000496043.1:n.*1594dup
ENST00000646319.1:c.1601dup	ENSP00000495377.1:p.Val535CysfsTer12
ENST00000646390.1:n.3889dup
ENST00000646627.1:c.1043dup	ENSP00000493795.1:p.Val349CysfsTer12
ENST00000646679.1:c.1043dup	ENSP00000494887.1:p.Val349CysfsTer12
ENST00000646822.1:n.2663dup
ENST00000646940.1:n.1775dup
ENST00000647286.1:n.1699dup
ENST00000647477.1:n.340dup
ENST00000399959.6:c.1601dup	ENSP00000382840.2:p.Val535CysfsTer12
ENST00000441189.3:c.341-1032dup	ENSP00000414281.2:n.341-1032dup
ENST00000457138.6:c.1553dup	ENSP00000392494.2:p.Val519CysfsTer12
ENST00000478993.5:c.1601dup	ENSP00000478443.1:p.Val535CysfsTer12
ENST00000611968.1:c.43dup
ENST00000616050.2:c.154dup
ENST00000625837.2:c.1601dup	ENSP00000486306.1:p.Val535CysfsTer12
ENST00000626301.2:c.1601dup	ENSP00000486443.1:p.Val535CysfsTer12
ENST00000629496.2:c.1601dup	ENSP00000487224.1:p.Val535CysfsTer12
ENST00000629785.2:c.1601dup	ENSP00000486516.1:p.Val535CysfsTer12
ENST00000630255.2:c.1601dup	ENSP00000486720.1:p.Val535CysfsTer12
ENST00000630370.2:c.1601dup	ENSP00000487062.1:p.Val535CysfsTer12
ENST00000630858.2:c.1601dup	ENSP00000486514.1:p.Val535CysfsTer12
NM_001193416.2:c.1601dup	NP_001180345.1:p.Val535CysfsTer12
NM_001193417.2:c.1553dup	NP_001180346.1:p.Val519CysfsTer12
NM_001356.4:c.1601dup	NP_001347.3:p.Val535CysfsTer12
NR_126093.1:n.2546dup
XM_011543892.1:c.1601dup	XP_011542194.1:p.Val535CysfsTer12
NM_001363819.1:c.1043dup	NP_001350748.1:p.Val349CysfsTer12
XM_011543892.2:c.1601dup	XP_011542194.1:p.Val535CysfsTer12
XM_017029313.1:c.1043dup	XP_016884802.1:p.Val349CysfsTer12
NM_001193416.3:c.1601dup	NP_001180345.1:p.Val535CysfsTer12
NM_001193417.3:c.1553dup	NP_001180346.1:p.Val519CysfsTer12
NM_001356.5:c.1601dup MANE Select	NP_001347.3:p.Val535CysfsTer12