Canonical Allele Identifier: CA2738497986
Gene: DDX3X HGNC NCBI

Linked Data

dbSNP Id: rs2147359216

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41346569del , CM000685.2:g.41346569del GRCh38
NC_000023.10:g.41205822del , CM000685.1:g.41205822del GRCh37
NC_000023.9:g.41090766del NCBI36
NG_012830.1:g.18172del
NG_012830.2:g.18172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642322.2:c.1694del ENSP00000496052.2:p.Asp565ValfsTer15
ENST00000399959.7:c.1559del ENSP00000382840.3:p.Asp520ValfsTer15
ENST00000441189.4:c.1463del ENSP00000414281.3:p.Asp488ValfsTer15
ENST00000457138.7:c.1514del ENSP00000392494.2:p.Asp505ValfsTer15
ENST00000611968.2:c.156del
ENST00000616050.3:c.310del
ENST00000629496.3:c.1562del ENSP00000487224.1:p.Asp521ValfsTer15
ENST00000642161.1:n.3761del
ENST00000642322.1:c.1004del ENSP00000496052.1:p.Asp335ValfsTer15
ENST00000642424.1:c.1004del ENSP00000496356.1:p.Asp335ValfsTer15
ENST00000642589.1:n.4884del
ENST00000642597.1:n.1736del
ENST00000642687.1:n.1595del
ENST00000642722.1:n.2395del
ENST00000642763.1:n.2453del
ENST00000642793.1:c.*1011del ENSP00000493976.1:n.*1011del
ENST00000642801.1:n.1211del
ENST00000643820.1:n.932del
ENST00000643963.1:c.*844del ENSP00000495264.1:n.*844del
ENST00000644073.1:c.1520del ENSP00000493475.1:p.Asp507ValfsTer15
ENST00000644074.1:c.1559del ENSP00000496663.1:p.Asp520ValfsTer15
ENST00000644109.1:c.1724del ENSP00000494952.1:p.Asp575ValfsTer15
ENST00000644307.1:n.1732del
ENST00000644513.1:c.1562del ENSP00000493819.1:p.Asp521ValfsTer15
ENST00000644677.1:c.1445del ENSP00000496524.1:p.Asp482ValfsTer15
ENST00000644876.2:c.1562del MANE Select ENSP00000494040.1:p.Asp521ValfsTer15
ENST00000644958.1:n.3223del
ENST00000645080.1:c.*2784del ENSP00000494767.1:n.*2784del
ENST00000645120.1:n.3057del
ENST00000645338.1:n.1732del
ENST00000645380.1:n.3026del
ENST00000645561.1:n.2738del
ENST00000645574.1:n.4426del
ENST00000645589.1:c.*61del ENSP00000494588.1:n.*61del
ENST00000646107.1:c.1445del ENSP00000494518.1:p.Asp482ValfsTer15
ENST00000646122.1:c.1562del ENSP00000496222.1:p.Asp521ValfsTer15
ENST00000646196.1:n.2531del
ENST00000646223.1:c.*1555del ENSP00000496043.1:n.*1555del
ENST00000646319.1:c.1562del ENSP00000495377.1:p.Asp521ValfsTer15
ENST00000646390.1:n.3850del
ENST00000646627.1:c.1004del ENSP00000493795.1:p.Asp335ValfsTer15
ENST00000646679.1:c.1004del ENSP00000494887.1:p.Asp335ValfsTer15
ENST00000646822.1:n.2624del
ENST00000646940.1:n.1736del
ENST00000647286.1:n.1660del
ENST00000647477.1:n.301del
ENST00000399959.6:c.1562del ENSP00000382840.2:p.Asp521ValfsTer15
ENST00000441189.3:c.341-1071del ENSP00000414281.2:n.341-1071del
ENST00000457138.6:c.1514del ENSP00000392494.2:p.Asp505ValfsTer15
ENST00000478993.5:c.1562del ENSP00000478443.1:p.Asp521ValfsTer15
ENST00000611968.1:c.4del
ENST00000616050.2:c.115del
ENST00000625837.2:c.1562del ENSP00000486306.1:p.Asp521ValfsTer15
ENST00000626301.2:c.1562del ENSP00000486443.1:p.Asp521ValfsTer15
ENST00000629496.2:c.1562del ENSP00000487224.1:p.Asp521ValfsTer15
ENST00000629785.2:c.1562del ENSP00000486516.1:p.Asp521ValfsTer15
ENST00000630255.2:c.1562del ENSP00000486720.1:p.Asp521ValfsTer15
ENST00000630370.2:c.1562del ENSP00000487062.1:p.Asp521ValfsTer15
ENST00000630858.2:c.1562del ENSP00000486514.1:p.Asp521ValfsTer15
NM_001193416.2:c.1562del NP_001180345.1:p.Asp521ValfsTer15
NM_001193417.2:c.1514del NP_001180346.1:p.Asp505ValfsTer15
NM_001356.4:c.1562del NP_001347.3:p.Asp521ValfsTer15
NR_126093.1:n.2507del
XM_011543892.1:c.1562del XP_011542194.1:p.Asp521ValfsTer15
NM_001363819.1:c.1004del NP_001350748.1:p.Asp335ValfsTer15
XM_011543892.2:c.1562del XP_011542194.1:p.Asp521ValfsTer15
XM_017029313.1:c.1004del XP_016884802.1:p.Asp335ValfsTer15
NM_001193416.3:c.1562del NP_001180345.1:p.Asp521ValfsTer15
NM_001193417.3:c.1514del NP_001180346.1:p.Asp505ValfsTer15
NM_001356.5:c.1562del MANE Select NP_001347.3:p.Asp521ValfsTer15