Canonical Allele Identifier: CA658799712

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 524010
• ClinVar RCV Id: RCV000627502
• dbSNP Id: rs1555954122
• MyVariant Identifiers: chrX:g.41205620dup (hg19) ; chrX:g.41346367dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346367dup , CM000685.2:g.41346367dup	GRCh38
NC_000023.10:g.41205620dup , CM000685.1:g.41205620dup	GRCh37
NC_000023.9:g.41090564dup	NCBI36
NG_012830.1:g.17970dup
NG_012830.2:g.17970dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1586dup	ENSP00000496052.2:p.His529GlnfsTer?
ENST00000399959.7:c.1451dup	ENSP00000382840.3:p.His484GlnfsTer?
ENST00000441189.4:c.1355dup	ENSP00000414281.3:p.His452GlnfsTer?
ENST00000457138.7:c.1406dup	ENSP00000392494.2:p.His469GlnfsTer?
ENST00000611968.2:c.48dup
ENST00000616050.3:c.202dup
ENST00000629496.3:c.1454dup	ENSP00000487224.1:p.His485GlnfsTer?
ENST00000642161.1:n.3653dup
ENST00000642322.1:c.896dup	ENSP00000496052.1:p.His299GlnfsTer?
ENST00000642424.1:c.896dup	ENSP00000496356.1:p.His299GlnfsTer?
ENST00000642589.1:n.4776dup
ENST00000642597.1:n.1628dup
ENST00000642687.1:n.1487dup
ENST00000642722.1:n.2287dup
ENST00000642763.1:n.2345dup
ENST00000642793.1:c.*903dup	ENSP00000493976.1:n.*903dup
ENST00000642801.1:n.1103dup
ENST00000643820.1:n.730dup
ENST00000643963.1:c.*736dup	ENSP00000495264.1:n.*736dup
ENST00000644073.1:c.1412dup	ENSP00000493475.1:p.His471GlnfsTer?
ENST00000644074.1:c.1451dup	ENSP00000496663.1:p.His484GlnfsTer?
ENST00000644109.1:c.1616dup	ENSP00000494952.1:p.His539GlnfsTer?
ENST00000644307.1:n.1624dup
ENST00000644513.1:c.1454dup	ENSP00000493819.1:p.His485GlnfsTer?
ENST00000644677.1:c.1337dup	ENSP00000496524.1:p.His446GlnfsTer?
ENST00000644876.2:c.1454dup MANE Select	ENSP00000494040.1:p.His485GlnfsTer?
ENST00000644958.1:n.3115dup
ENST00000645080.1:c.*2676dup	ENSP00000494767.1:n.*2676dup
ENST00000645120.1:n.2949dup
ENST00000645338.1:n.1624dup
ENST00000645380.1:n.2918dup
ENST00000645561.1:n.2630dup
ENST00000645574.1:n.4318dup
ENST00000645589.1:c.1454dup	ENSP00000494588.1:p.His485GlnfsTer?
ENST00000646107.1:c.1337dup	ENSP00000494518.1:p.His446GlnfsTer?
ENST00000646122.1:c.1454dup	ENSP00000496222.1:p.His485GlnfsTer?
ENST00000646196.1:n.2423dup
ENST00000646223.1:c.*1447dup	ENSP00000496043.1:n.*1447dup
ENST00000646319.1:c.1454dup	ENSP00000495377.1:p.His485GlnfsTer?
ENST00000646390.1:n.3742dup
ENST00000646627.1:c.896dup	ENSP00000493795.1:p.His299GlnfsTer?
ENST00000646679.1:c.896dup	ENSP00000494887.1:p.His299GlnfsTer?
ENST00000646822.1:n.2516dup
ENST00000646940.1:n.1628dup
ENST00000647286.1:n.1552dup
ENST00000647477.1:n.193dup
ENST00000399959.6:c.1454dup	ENSP00000382840.2:p.His485GlnfsTer?
ENST00000441189.3:c.341-1273dup	ENSP00000414281.2:n.341-1273dup
ENST00000457138.6:c.1406dup	ENSP00000392494.2:p.His469GlnfsTer?
ENST00000478993.5:c.1454dup	ENSP00000478443.1:p.His485GlnfsTer?
ENST00000542215.5:n.1502dup
ENST00000616050.2:c.7dup
ENST00000625837.2:c.1454dup	ENSP00000486306.1:p.His485GlnfsTer?
ENST00000626301.2:c.1454dup	ENSP00000486443.1:p.His485GlnfsTer?
ENST00000629496.2:c.1454dup	ENSP00000487224.1:p.His485GlnfsTer?
ENST00000629785.2:c.1454dup	ENSP00000486516.1:p.His485GlnfsTer?
ENST00000630255.2:c.1454dup	ENSP00000486720.1:p.His485GlnfsTer?
ENST00000630370.2:c.1454dup	ENSP00000487062.1:p.His485GlnfsTer?
ENST00000630858.2:c.1454dup	ENSP00000486514.1:p.His485GlnfsTer?
NM_001193416.2:c.1454dup	NP_001180345.1:p.His485GlnfsTer?
NM_001193417.2:c.1406dup	NP_001180346.1:p.His469GlnfsTer?
NM_001356.4:c.1454dup	NP_001347.3:p.His485GlnfsTer?
NR_126093.1:n.2399dup
XM_011543892.1:c.1454dup	XP_011542194.1:p.His485GlnfsTer?
NM_001363819.1:c.896dup	NP_001350748.1:p.His299GlnfsTer?
XM_011543892.2:c.1454dup	XP_011542194.1:p.His485GlnfsTer?
XM_017029313.1:c.896dup	XP_016884802.1:p.His299GlnfsTer?
NM_001193416.3:c.1454dup	NP_001180345.1:p.His485GlnfsTer?
NM_001193417.3:c.1406dup	NP_001180346.1:p.His469GlnfsTer?
NM_001356.5:c.1454dup MANE Select	NP_001347.3:p.His485GlnfsTer?