Canonical Allele Identifier: CA2579588529
Community Standard Title: NM_001356.5(DDX3X):c.488dup (p.Tyr163Ter)
Gene: DDX3X HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41342781dup , CM000685.2:g.41342781dup GRCh38
NC_000023.10:g.41202034dup , CM000685.1:g.41202034dup GRCh37
NC_000023.9:g.41086978dup NCBI36
NG_012830.1:g.14384dup
NG_012830.2:g.14384dup

Transcript Alleles

HGVS Amino-acid Change
NM_001356.5:c.488dup MANE Select NP_001347.3:p.Tyr163Ter
ENST00000644876.2:c.488dup MANE Select ENSP00000494040.1:p.Tyr163Ter
NM_001193416.2:c.488dup NP_001180345.1:p.Tyr163Ter
NM_001193416.3:c.488dup NP_001180345.1:p.Tyr163Ter
NM_001193417.2:c.440dup NP_001180346.1:p.Tyr147Ter
NM_001193417.3:c.440dup NP_001180346.1:p.Tyr147Ter
NM_001356.4:c.488dup NP_001347.3:p.Tyr163Ter
NM_001363819.1:c.-71dup NP_001350748.1:n.-71dup
NR_126093.1:n.1433dup
ENST00000399959.6:c.488dup ENSP00000382840.2:p.Tyr163Ter
ENST00000399959.7:c.485dup ENSP00000382840.3:p.Tyr162Ter
ENST00000441189.3:c.340+231dup ENSP00000414281.2:n.340+231dup
ENST00000441189.4:c.488dup ENSP00000414281.3:p.Tyr163Ter
ENST00000457138.6:c.440dup ENSP00000392494.2:p.Tyr147Ter
ENST00000457138.7:c.440dup ENSP00000392494.2:p.Tyr147Ter
ENST00000478993.5:c.488dup ENSP00000478443.1:p.Tyr163Ter
ENST00000542215.5:n.622dup
ENST00000625837.2:c.488dup ENSP00000486306.1:p.Tyr163Ter
ENST00000626301.2:c.488dup ENSP00000486443.1:p.Tyr163Ter
ENST00000629496.2:c.488dup ENSP00000487224.1:p.Tyr163Ter
ENST00000629496.3:c.488dup ENSP00000487224.1:p.Tyr163Ter
ENST00000629785.2:c.488dup ENSP00000486516.1:p.Tyr163Ter
ENST00000630255.2:c.488dup ENSP00000486720.1:p.Tyr163Ter
ENST00000630370.2:c.488dup ENSP00000487062.1:p.Tyr163Ter
ENST00000630858.2:c.488dup ENSP00000486514.1:p.Tyr163Ter
ENST00000631641.1:c.440dup ENSP00000488854.1:p.Tyr147Ter
ENST00000631641.2:n.531dup
ENST00000642161.1:n.2687dup
ENST00000642322.1:c.-71dup ENSP00000496052.1:n.-71dup
ENST00000642322.2:c.620dup ENSP00000496052.2:p.Tyr207Ter
ENST00000642424.1:c.-71dup ENSP00000496356.1:n.-71dup
ENST00000642589.1:n.2839dup
ENST00000642597.1:n.662dup
ENST00000642624.1:n.461dup
ENST00000642687.1:n.142dup
ENST00000642722.1:n.1457dup
ENST00000642763.1:n.1379dup
ENST00000642793.1:c.488dup ENSP00000493976.1:p.Tyr163Ter
ENST00000643963.1:c.488dup ENSP00000495264.1:p.Tyr163Ter
ENST00000644073.1:c.446dup ENSP00000493475.1:p.Tyr149Ter
ENST00000644074.1:c.485dup ENSP00000496663.1:p.Tyr162Ter
ENST00000644109.1:c.485dup ENSP00000494952.1:p.Tyr162Ter
ENST00000644260.1:n.399dup
ENST00000644307.1:n.579dup
ENST00000644513.1:c.488dup ENSP00000493819.1:p.Tyr163Ter
ENST00000644677.1:c.371dup ENSP00000496524.1:p.Tyr124Ter
ENST00000644958.1:n.2149dup
ENST00000645080.1:c.*1710dup ENSP00000494767.1:n.*1710dup
ENST00000645120.1:n.1983dup
ENST00000645253.1:n.1994dup
ENST00000645338.1:n.579dup
ENST00000645380.1:n.1873dup
ENST00000645561.1:n.1457dup
ENST00000645574.1:n.2760dup
ENST00000645589.1:c.488dup ENSP00000494588.1:p.Tyr163Ter
ENST00000646107.1:c.371dup ENSP00000494518.1:p.Tyr124Ter
ENST00000646122.1:c.488dup ENSP00000496222.1:p.Tyr163Ter
ENST00000646196.1:n.1457dup
ENST00000646223.1:c.*481dup ENSP00000496043.1:n.*481dup
ENST00000646319.1:c.488dup ENSP00000495377.1:p.Tyr163Ter
ENST00000646390.1:n.2776dup
ENST00000646627.1:c.-71dup ENSP00000493795.1:n.-71dup
ENST00000646679.1:c.-71dup ENSP00000494887.1:n.-71dup
ENST00000646822.1:n.579dup
ENST00000646940.1:n.662dup
ENST00000647286.1:n.379dup
ENST00000647373.1:c.45dup
XM_011543892.1:c.488dup XP_011542194.1:p.Tyr163Ter
XM_011543892.2:c.488dup XP_011542194.1:p.Tyr163Ter
XM_017029313.1:c.-71dup XP_016884802.1:n.-71dup