Canonical Allele Identifier: CA2582342907
Gene: DDX3X HGNC NCBI

Linked Data

ClinVar Variation Id: 2615584
ClinVar RCV Id: RCV003360485

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41345201dup , CM000685.2:g.41345201dup GRCh38
NC_000023.10:g.41204454dup , CM000685.1:g.41204454dup GRCh37
NC_000023.9:g.41089398dup NCBI36
NG_012830.1:g.16804dup
NG_012830.2:g.16804dup

Transcript Alleles

HGVS Amino-acid change
ENST00000642322.2:c.1179dup ENSP00000496052.2:p.Asp394Ter
ENST00000399959.7:c.1044dup ENSP00000382840.3:p.Asp349Ter
ENST00000441189.4:c.948dup ENSP00000414281.3:p.Asp317Ter
ENST00000457138.7:c.999dup ENSP00000392494.2:p.Asp334Ter
ENST00000629496.3:c.1047dup ENSP00000487224.1:p.Asp350Ter
ENST00000642161.1:n.3246dup
ENST00000642322.1:c.489dup ENSP00000496052.1:p.Asp164Ter
ENST00000642424.1:c.489dup ENSP00000496356.1:p.Asp164Ter
ENST00000642589.1:n.4369dup
ENST00000642597.1:n.1221dup
ENST00000642687.1:n.1080dup
ENST00000642722.1:n.1880dup
ENST00000642763.1:n.1938dup
ENST00000642793.1:c.*496dup ENSP00000493976.1:n.*496dup
ENST00000642801.1:n.696dup
ENST00000643820.1:n.323dup
ENST00000643963.1:c.*329dup ENSP00000495264.1:n.*329dup
ENST00000644073.1:c.1005dup ENSP00000493475.1:p.Asp336Ter
ENST00000644074.1:c.1044dup ENSP00000496663.1:p.Asp349Ter
ENST00000644109.1:c.1209dup ENSP00000494952.1:p.Asp404Ter
ENST00000644307.1:n.1138dup
ENST00000644513.1:c.1047dup ENSP00000493819.1:p.Asp350Ter
ENST00000644677.1:c.930dup ENSP00000496524.1:p.Asp311Ter
ENST00000644876.2:c.1047dup MANE Select ENSP00000494040.1:p.Asp350Ter
ENST00000644958.1:n.2708dup
ENST00000645080.1:c.*2269dup ENSP00000494767.1:n.*2269dup
ENST00000645120.1:n.2542dup
ENST00000645338.1:n.1138dup
ENST00000645380.1:n.2432dup
ENST00000645561.1:n.2223dup
ENST00000645574.1:n.3911dup
ENST00000645589.1:c.1047dup ENSP00000494588.1:p.Asp350Ter
ENST00000646093.1:n.231dup
ENST00000646107.1:c.930dup ENSP00000494518.1:p.Asp311Ter
ENST00000646122.1:c.1047dup ENSP00000496222.1:p.Asp350Ter
ENST00000646196.1:n.2016dup
ENST00000646223.1:c.*1040dup ENSP00000496043.1:n.*1040dup
ENST00000646319.1:c.1047dup ENSP00000495377.1:p.Asp350Ter
ENST00000646390.1:n.3335dup
ENST00000646627.1:c.489dup ENSP00000493795.1:p.Asp164Ter
ENST00000646679.1:c.489dup ENSP00000494887.1:p.Asp164Ter
ENST00000646822.1:n.2109dup
ENST00000646940.1:n.1221dup
ENST00000647286.1:n.1145dup
ENST00000399959.6:c.1047dup ENSP00000382840.2:p.Asp350Ter
ENST00000441189.3:c.341-2439dup ENSP00000414281.2:n.341-2439dup
ENST00000457138.6:c.999dup ENSP00000392494.2:p.Asp334Ter
ENST00000478993.5:c.1047dup ENSP00000478443.1:p.Asp350Ter
ENST00000542215.5:n.1095dup
ENST00000625837.2:c.1047dup ENSP00000486306.1:p.Asp350Ter
ENST00000626301.2:c.1047dup ENSP00000486443.1:p.Asp350Ter
ENST00000629496.2:c.1047dup ENSP00000487224.1:p.Asp350Ter
ENST00000629785.2:c.1047dup ENSP00000486516.1:p.Asp350Ter
ENST00000630255.2:c.1047dup ENSP00000486720.1:p.Asp350Ter
ENST00000630370.2:c.1047dup ENSP00000487062.1:p.Asp350Ter
ENST00000630858.2:c.1047dup ENSP00000486514.1:p.Asp350Ter
NM_001193416.2:c.1047dup NP_001180345.1:p.Asp350Ter
NM_001193417.2:c.999dup NP_001180346.1:p.Asp334Ter
NM_001356.4:c.1047dup NP_001347.3:p.Asp350Ter
NR_126093.1:n.1992dup
XM_011543892.1:c.1047dup XP_011542194.1:p.Asp350Ter
NM_001363819.1:c.489dup NP_001350748.1:p.Asp164Ter
XM_011543892.2:c.1047dup XP_011542194.1:p.Asp350Ter
XM_017029313.1:c.489dup XP_016884802.1:p.Asp164Ter
NM_001193416.3:c.1047dup NP_001180345.1:p.Asp350Ter
NM_001193417.3:c.999dup NP_001180346.1:p.Asp334Ter
NM_001356.5:c.1047dup MANE Select NP_001347.3:p.Asp350Ter