Canonical Allele Identifier: CA2739273413

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2823212
• ClinVar RCV Id: RCV003706578

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346547dup , CM000685.2:g.41346547dup	GRCh38
NC_000023.10:g.41205800dup , CM000685.1:g.41205800dup	GRCh37
NC_000023.9:g.41090744dup	NCBI36
NG_012830.1:g.18150dup
NG_012830.2:g.18150dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1672dup	ENSP00000496052.2:p.Ile558AsnfsTer4
ENST00000399959.7:c.1537dup	ENSP00000382840.3:p.Ile513AsnfsTer4
ENST00000441189.4:c.1441dup	ENSP00000414281.3:p.Ile481AsnfsTer4
ENST00000457138.7:c.1492dup	ENSP00000392494.2:p.Ile498AsnfsTer4
ENST00000611968.2:c.134dup
ENST00000616050.3:c.288dup
ENST00000629496.3:c.1540dup	ENSP00000487224.1:p.Ile514AsnfsTer4
ENST00000642161.1:n.3739dup
ENST00000642322.1:c.982dup	ENSP00000496052.1:p.Ile328AsnfsTer4
ENST00000642424.1:c.982dup	ENSP00000496356.1:p.Ile328AsnfsTer4
ENST00000642589.1:n.4862dup
ENST00000642597.1:n.1714dup
ENST00000642687.1:n.1573dup
ENST00000642722.1:n.2373dup
ENST00000642763.1:n.2431dup
ENST00000642793.1:c.*989dup	ENSP00000493976.1:n.*989dup
ENST00000642801.1:n.1189dup
ENST00000643820.1:n.910dup
ENST00000643963.1:c.*822dup	ENSP00000495264.1:n.*822dup
ENST00000644073.1:c.1498dup	ENSP00000493475.1:p.Ile500AsnfsTer4
ENST00000644074.1:c.1537dup	ENSP00000496663.1:p.Ile513AsnfsTer4
ENST00000644109.1:c.1702dup	ENSP00000494952.1:p.Ile568AsnfsTer4
ENST00000644307.1:n.1710dup
ENST00000644513.1:c.1540dup	ENSP00000493819.1:p.Ile514AsnfsTer4
ENST00000644677.1:c.1423dup	ENSP00000496524.1:p.Ile475AsnfsTer4
ENST00000644876.2:c.1540dup MANE Select	ENSP00000494040.1:p.Ile514AsnfsTer4
ENST00000644958.1:n.3201dup
ENST00000645080.1:c.*2762dup	ENSP00000494767.1:n.*2762dup
ENST00000645120.1:n.3035dup
ENST00000645338.1:n.1710dup
ENST00000645380.1:n.3004dup
ENST00000645561.1:n.2716dup
ENST00000645574.1:n.4404dup
ENST00000645589.1:c.*39dup	ENSP00000494588.1:n.*39dup
ENST00000646107.1:c.1423dup	ENSP00000494518.1:p.Ile475AsnfsTer4
ENST00000646122.1:c.1540dup	ENSP00000496222.1:p.Ile514AsnfsTer4
ENST00000646196.1:n.2509dup
ENST00000646223.1:c.*1533dup	ENSP00000496043.1:n.*1533dup
ENST00000646319.1:c.1540dup	ENSP00000495377.1:p.Ile514AsnfsTer4
ENST00000646390.1:n.3828dup
ENST00000646627.1:c.982dup	ENSP00000493795.1:p.Ile328AsnfsTer4
ENST00000646679.1:c.982dup	ENSP00000494887.1:p.Ile328AsnfsTer4
ENST00000646822.1:n.2602dup
ENST00000646940.1:n.1714dup
ENST00000647286.1:n.1638dup
ENST00000647477.1:n.279dup
ENST00000399959.6:c.1540dup	ENSP00000382840.2:p.Ile514AsnfsTer4
ENST00000441189.3:c.341-1093dup	ENSP00000414281.2:n.341-1093dup
ENST00000457138.6:c.1492dup	ENSP00000392494.2:p.Ile498AsnfsTer4
ENST00000478993.5:c.1540dup	ENSP00000478443.1:p.Ile514AsnfsTer4
ENST00000542215.5:n.1588dup
ENST00000616050.2:c.93dup
ENST00000625837.2:c.1540dup	ENSP00000486306.1:p.Ile514AsnfsTer4
ENST00000626301.2:c.1540dup	ENSP00000486443.1:p.Ile514AsnfsTer4
ENST00000629496.2:c.1540dup	ENSP00000487224.1:p.Ile514AsnfsTer4
ENST00000629785.2:c.1540dup	ENSP00000486516.1:p.Ile514AsnfsTer4
ENST00000630255.2:c.1540dup	ENSP00000486720.1:p.Ile514AsnfsTer4
ENST00000630370.2:c.1540dup	ENSP00000487062.1:p.Ile514AsnfsTer4
ENST00000630858.2:c.1540dup	ENSP00000486514.1:p.Ile514AsnfsTer4
NM_001193416.2:c.1540dup	NP_001180345.1:p.Ile514AsnfsTer4
NM_001193417.2:c.1492dup	NP_001180346.1:p.Ile498AsnfsTer4
NM_001356.4:c.1540dup	NP_001347.3:p.Ile514AsnfsTer4
NR_126093.1:n.2485dup
XM_011543892.1:c.1540dup	XP_011542194.1:p.Ile514AsnfsTer4
NM_001363819.1:c.982dup	NP_001350748.1:p.Ile328AsnfsTer4
XM_011543892.2:c.1540dup	XP_011542194.1:p.Ile514AsnfsTer4
XM_017029313.1:c.982dup	XP_016884802.1:p.Ile328AsnfsTer4
NM_001193416.3:c.1540dup	NP_001180345.1:p.Ile514AsnfsTer4
NM_001193417.3:c.1492dup	NP_001180346.1:p.Ile498AsnfsTer4
NM_001356.5:c.1540dup MANE Select	NP_001347.3:p.Ile514AsnfsTer4