Canonical Allele Identifier: CA16044241
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 375368
ClinVar RCV Id: RCV000416474
dbSNP Id: rs1057519431

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41341524dup , CM000685.2:g.41341524dup GRCh38
NC_000023.10:g.41200777dup , CM000685.1:g.41200777dup GRCh37
NC_000023.9:g.41085721dup NCBI36
NG_012830.1:g.13127dup
NG_012830.2:g.13127dup

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.324dup ENSP00000496052.2:p.Asp109ArgfsTer2
ENST00000399959.7:c.189dup ENSP00000382840.3:p.Asp64ArgfsTer2
ENST00000441189.4:c.192dup ENSP00000414281.3:p.Asp65ArgfsTer2
ENST00000457138.7:c.144dup ENSP00000392494.2:p.Asp49ArgfsTer2
ENST00000611546.2:n.498dup
ENST00000615313.5:c.150dup ENSP00000496257.1:p.Asp51ArgfsTer2
ENST00000622198.5:n.349dup
ENST00000629496.3:c.192dup ENSP00000487224.1:p.Asp65ArgfsTer2
ENST00000631641.2:n.235dup
ENST00000642161.1:n.1513dup
ENST00000642322.1:c.-367dup ENSP00000496052.1:n.-367dup
ENST00000642424.1:c.-367dup ENSP00000496356.1:n.-367dup
ENST00000642589.1:n.1582dup
ENST00000642597.1:n.283dup
ENST00000642624.1:n.82dup
ENST00000642722.1:n.283dup
ENST00000642763.1:n.205dup
ENST00000642793.1:c.192dup ENSP00000493976.1:p.Asp65ArgfsTer2
ENST00000643963.1:c.192dup ENSP00000495264.1:p.Asp65ArgfsTer2
ENST00000644073.1:c.150dup ENSP00000493475.1:p.Asp51ArgfsTer2
ENST00000644074.1:c.189dup ENSP00000496663.1:p.Asp64ArgfsTer2
ENST00000644109.1:c.189dup ENSP00000494952.1:p.Asp64ArgfsTer2
ENST00000644260.1:n.20dup
ENST00000644307.1:n.283dup
ENST00000644513.1:c.192dup ENSP00000493819.1:p.Asp65ArgfsTer2
ENST00000644677.1:c.75dup ENSP00000496524.1:p.Asp26ArgfsTer2
ENST00000644876.2:c.192dup MANE Select ENSP00000494040.1:p.Asp65ArgfsTer2
ENST00000644958.1:n.1853dup
ENST00000645080.1:c.*1414dup ENSP00000494767.1:n.*1414dup
ENST00000645120.1:n.1687dup
ENST00000645253.1:n.1615dup
ENST00000645338.1:n.283dup
ENST00000645380.1:n.1577dup
ENST00000645561.1:n.283dup
ENST00000645574.1:n.1503dup
ENST00000645589.1:c.192dup ENSP00000494588.1:p.Asp65ArgfsTer2
ENST00000645783.1:c.*1291dup ENSP00000494905.1:n.*1291dup
ENST00000646107.1:c.75dup ENSP00000494518.1:p.Asp26ArgfsTer2
ENST00000646122.1:c.192dup ENSP00000496222.1:p.Asp65ArgfsTer2
ENST00000646196.1:n.283dup
ENST00000646223.1:c.*185dup ENSP00000496043.1:n.*185dup
ENST00000646319.1:c.192dup ENSP00000495377.1:p.Asp65ArgfsTer2
ENST00000646390.1:n.1519dup
ENST00000646627.1:c.-367dup ENSP00000493795.1:n.-367dup
ENST00000646679.1:c.-367dup ENSP00000494887.1:n.-367dup
ENST00000646822.1:n.283dup
ENST00000646940.1:n.283dup
ENST00000647219.1:n.177dup
ENST00000399959.6:c.192dup ENSP00000382840.2:p.Asp65ArgfsTer2
ENST00000441189.3:c.192dup ENSP00000414281.2:p.Asp65ArgfsTer2
ENST00000457138.6:c.144dup ENSP00000392494.2:p.Asp49ArgfsTer2
ENST00000478993.5:c.192dup ENSP00000478443.1:p.Asp65ArgfsTer2
ENST00000542215.5:n.326dup
ENST00000611546.1:n.324dup
ENST00000615313.4:n.428dup
ENST00000615742.4:c.192dup ENSP00000480647.1:p.Asp65ArgfsTer2
ENST00000622198.4:n.293dup
ENST00000625837.2:c.192dup ENSP00000486306.1:p.Asp65ArgfsTer2
ENST00000626301.2:c.192dup ENSP00000486443.1:p.Asp65ArgfsTer2
ENST00000629496.2:c.192dup ENSP00000487224.1:p.Asp65ArgfsTer2
ENST00000629785.2:c.192dup ENSP00000486516.1:p.Asp65ArgfsTer2
ENST00000630255.2:c.192dup ENSP00000486720.1:p.Asp65ArgfsTer2
ENST00000630370.2:c.192dup ENSP00000487062.1:p.Asp65ArgfsTer2
ENST00000630858.2:c.192dup ENSP00000486514.1:p.Asp65ArgfsTer2
ENST00000631641.1:c.144dup ENSP00000488854.1:p.Asp49ArgfsTer2
NM_001193416.2:c.192dup NP_001180345.1:p.Asp65ArgfsTer2
NM_001193417.2:c.144dup NP_001180346.1:p.Asp49ArgfsTer2
NM_001356.4:c.192dup NP_001347.3:p.Asp65ArgfsTer2
NR_126093.1:n.1137dup
XM_011543892.1:c.192dup XP_011542194.1:p.Asp65ArgfsTer2
NM_001363819.1:c.-367dup NP_001350748.1:n.-367dup
XM_011543892.2:c.192dup XP_011542194.1:p.Asp65ArgfsTer2
XM_017029313.1:c.-367dup XP_016884802.1:n.-367dup
NM_001193416.3:c.192dup NP_001180345.1:p.Asp65ArgfsTer2
NM_001193417.3:c.144dup NP_001180346.1:p.Asp49ArgfsTer2
NM_001356.5:c.192dup MANE Select NP_001347.3:p.Asp65ArgfsTer2