Canonical Allele Identifier: CA916083936

Gene: DDX3X

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346989del , CM000685.2:g.41346989del	GRCh38
NC_000023.10:g.41206242del , CM000685.1:g.41206242del	GRCh37
NC_000023.9:g.41091186del	NCBI36
NG_012830.1:g.18592del
NG_012830.2:g.18592del

Transcript Alleles

HGVS	Amino-acid Change
NM_001356.5:c.1746del MANE Select	NP_001347.3:p.Ser583AlafsTer?
ENST00000644876.2:c.1746del MANE Select	ENSP00000494040.1:p.Ser583AlafsTer?
NM_001193416.2:c.1746del	NP_001180345.1:p.Ser583AlafsTer?
NM_001193416.3:c.1746del	NP_001180345.1:p.Ser583AlafsTer?
NM_001193417.2:c.1698del	NP_001180346.1:p.Ser567AlafsTer?
NM_001193417.3:c.1698del	NP_001180346.1:p.Ser567AlafsTer?
NM_001356.4:c.1746del	NP_001347.3:p.Ser583AlafsTer?
NM_001363819.1:c.1188del	NP_001350748.1:p.Ser397AlafsTer?
NR_126093.1:n.2691del
ENST00000399959.6:c.1746del	ENSP00000382840.2:p.Ser583AlafsTer?
ENST00000399959.7:c.1743del	ENSP00000382840.3:p.Ser582AlafsTer?
ENST00000441189.3:c.341-651del	ENSP00000414281.2:n.341-651del
ENST00000441189.4:c.1647del	ENSP00000414281.3:p.Ser550AlafsTer?
ENST00000457138.6:c.1698del	ENSP00000392494.2:p.Ser567AlafsTer?
ENST00000457138.7:c.1698del	ENSP00000392494.2:p.Ser567AlafsTer?
ENST00000478993.5:c.1746del	ENSP00000478443.1:p.Ser583AlafsTer?
ENST00000611968.1:c.188del
ENST00000611968.2:c.340del
ENST00000616050.2:c.299del
ENST00000616050.3:c.494del
ENST00000625837.2:c.1746del	ENSP00000486306.1:p.Ser583AlafsTer?
ENST00000626301.2:c.1746del	ENSP00000486443.1:p.Ser583AlafsTer?
ENST00000629496.2:c.1746del	ENSP00000487224.1:p.Ser583AlafsTer?
ENST00000629496.3:c.1746del	ENSP00000487224.1:p.Ser583AlafsTer?
ENST00000629785.2:c.1746del	ENSP00000486516.1:p.Ser583AlafsTer?
ENST00000630255.2:c.1746del	ENSP00000486720.1:p.Ser583AlafsTer?
ENST00000630370.2:c.1746del	ENSP00000487062.1:p.Ser583AlafsTer?
ENST00000630858.2:c.1746del	ENSP00000486514.1:p.Ser583AlafsTer?
ENST00000642161.1:n.3945del
ENST00000642322.1:c.1188del	ENSP00000496052.1:p.Ser397AlafsTer?
ENST00000642322.2:c.1878del	ENSP00000496052.2:p.Ser627AlafsTer?
ENST00000642424.1:c.1188del	ENSP00000496356.1:p.Ser397AlafsTer?
ENST00000642589.1:n.5068del
ENST00000642597.1:n.1920del
ENST00000642687.1:n.1779del
ENST00000642722.1:n.2579del
ENST00000642763.1:n.2637del
ENST00000642793.1:c.*1195del	ENSP00000493976.1:n.*1195del
ENST00000642801.1:n.1395del
ENST00000643820.1:n.1116del
ENST00000643963.1:c.*1028del	ENSP00000495264.1:n.*1028del
ENST00000644073.1:c.1704del	ENSP00000493475.1:p.Ser569AlafsTer?
ENST00000644074.1:c.1743del	ENSP00000496663.1:p.Ser582AlafsTer?
ENST00000644109.1:c.1908del	ENSP00000494952.1:p.Ser637AlafsTer?
ENST00000644307.1:n.1916del
ENST00000644513.1:c.1746del	ENSP00000493819.1:p.Ser583AlafsTer?
ENST00000644677.1:c.1629del	ENSP00000496524.1:p.Ser544AlafsTer?
ENST00000644958.1:n.3407del
ENST00000645080.1:c.*2968del	ENSP00000494767.1:n.*2968del
ENST00000645120.1:n.3241del
ENST00000645338.1:n.1916del
ENST00000645380.1:n.3210del
ENST00000645561.1:n.2922del
ENST00000645574.1:n.4610del
ENST00000645589.1:c.*245del	ENSP00000494588.1:n.*245del
ENST00000646107.1:c.1629del	ENSP00000494518.1:p.Ser544AlafsTer?
ENST00000646122.1:c.1746del	ENSP00000496222.1:p.Ser583AlafsTer?
ENST00000646196.1:n.2715del
ENST00000646223.1:c.*1739del	ENSP00000496043.1:n.*1739del
ENST00000646319.1:c.1746del	ENSP00000495377.1:p.Ser583AlafsTer?
ENST00000646390.1:n.4034del
ENST00000646627.1:c.1188del	ENSP00000493795.1:p.Ser397AlafsTer?
ENST00000646679.1:c.1188del	ENSP00000494887.1:p.Ser397AlafsTer?
ENST00000646822.1:n.2808del
ENST00000646940.1:n.1920del
ENST00000647286.1:n.1844del
ENST00000647477.1:n.485del
XM_011543892.1:c.1746del	XP_011542194.1:p.Ser583AlafsTer?
XM_011543892.2:c.1746del	XP_011542194.1:p.Ser583AlafsTer?
XM_017029313.1:c.1188del	XP_016884802.1:p.Ser397AlafsTer?