Canonical Allele Identifier: CA319647
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 207820
ClinVar RCV Id: RCV000505734
dbSNP Id: rs796052238

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41345443del , CM000685.2:g.41345443del GRCh38
NC_000023.10:g.41204696del , CM000685.1:g.41204696del GRCh37
NC_000023.9:g.41089640del NCBI36
NG_012830.1:g.17046del
NG_012830.2:g.17046del

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1342del ENSP00000496052.2:p.Ala448LeufsTer2
ENST00000399959.7:c.1207del ENSP00000382840.3:p.Ala403LeufsTer2
ENST00000441189.4:c.1111del ENSP00000414281.3:p.Ala371LeufsTer2
ENST00000457138.7:c.1162del ENSP00000392494.2:p.Ala388LeufsTer2
ENST00000629496.3:c.1210del ENSP00000487224.1:p.Ala404LeufsTer2
ENST00000642161.1:n.3409del
ENST00000642322.1:c.652del ENSP00000496052.1:p.Ala218LeufsTer2
ENST00000642424.1:c.652del ENSP00000496356.1:p.Ala218LeufsTer2
ENST00000642589.1:n.4532del
ENST00000642597.1:n.1384del
ENST00000642687.1:n.1243del
ENST00000642722.1:n.2043del
ENST00000642763.1:n.2101del
ENST00000642793.1:c.*659del ENSP00000493976.1:n.*659del
ENST00000642801.1:n.859del
ENST00000643820.1:n.486del
ENST00000643963.1:c.*492del ENSP00000495264.1:n.*492del
ENST00000644073.1:c.1168del ENSP00000493475.1:p.Ala390LeufsTer2
ENST00000644074.1:c.1207del ENSP00000496663.1:p.Ala403LeufsTer2
ENST00000644109.1:c.1372del ENSP00000494952.1:p.Ala458LeufsTer2
ENST00000644307.1:n.1380del
ENST00000644513.1:c.1210del ENSP00000493819.1:p.Ala404LeufsTer2
ENST00000644677.1:c.1093del ENSP00000496524.1:p.Ala365LeufsTer2
ENST00000644876.2:c.1210del MANE Select ENSP00000494040.1:p.Ala404LeufsTer2
ENST00000644958.1:n.2871del
ENST00000645080.1:c.*2432del ENSP00000494767.1:n.*2432del
ENST00000645120.1:n.2705del
ENST00000645338.1:n.1380del
ENST00000645380.1:n.2674del
ENST00000645561.1:n.2386del
ENST00000645574.1:n.4074del
ENST00000645589.1:c.1210del ENSP00000494588.1:p.Ala404LeufsTer2
ENST00000646093.1:n.394del
ENST00000646107.1:c.1093del ENSP00000494518.1:p.Ala365LeufsTer2
ENST00000646122.1:c.1210del ENSP00000496222.1:p.Ala404LeufsTer2
ENST00000646196.1:n.2179del
ENST00000646223.1:c.*1203del ENSP00000496043.1:n.*1203del
ENST00000646319.1:c.1210del ENSP00000495377.1:p.Ala404LeufsTer2
ENST00000646390.1:n.3498del
ENST00000646627.1:c.652del ENSP00000493795.1:p.Ala218LeufsTer2
ENST00000646679.1:c.652del ENSP00000494887.1:p.Ala218LeufsTer2
ENST00000646822.1:n.2272del
ENST00000646940.1:n.1384del
ENST00000647286.1:n.1308del
ENST00000399959.6:c.1210del ENSP00000382840.2:p.Ala404LeufsTer2
ENST00000441189.3:c.341-2197del ENSP00000414281.2:n.341-2197del
ENST00000457138.6:c.1162del ENSP00000392494.2:p.Ala388LeufsTer2
ENST00000478993.5:c.1210del ENSP00000478443.1:p.Ala404LeufsTer2
ENST00000542215.5:n.1258del
ENST00000625837.2:c.1210del ENSP00000486306.1:p.Ala404LeufsTer2
ENST00000626301.2:c.1210del ENSP00000486443.1:p.Ala404LeufsTer2
ENST00000629496.2:c.1210del ENSP00000487224.1:p.Ala404LeufsTer2
ENST00000629785.2:c.1210del ENSP00000486516.1:p.Ala404LeufsTer2
ENST00000630255.2:c.1210del ENSP00000486720.1:p.Ala404LeufsTer2
ENST00000630370.2:c.1210del ENSP00000487062.1:p.Ala404LeufsTer2
ENST00000630858.2:c.1210del ENSP00000486514.1:p.Ala404LeufsTer2
NM_001193416.2:c.1210del NP_001180345.1:p.Ala404LeufsTer2
NM_001193417.2:c.1162del NP_001180346.1:p.Ala388LeufsTer2
NM_001356.4:c.1210del NP_001347.3:p.Ala404LeufsTer2
NR_126093.1:n.2155del
XM_011543892.1:c.1210del XP_011542194.1:p.Ala404LeufsTer2
NM_001363819.1:c.652del NP_001350748.1:p.Ala218LeufsTer2
XM_011543892.2:c.1210del XP_011542194.1:p.Ala404LeufsTer2
XM_017029313.1:c.652del XP_016884802.1:p.Ala218LeufsTer2
NM_001193416.3:c.1210del NP_001180345.1:p.Ala404LeufsTer2
NM_001193417.3:c.1162del NP_001180346.1:p.Ala388LeufsTer2
NM_001356.5:c.1210del MANE Select NP_001347.3:p.Ala404LeufsTer2