Canonical Allele Identifier: CA2693487380

Gene: DDX3X

Linked Data

• gnomAD v4: X-41344428-GTTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344429_41344432del , CM000685.2:g.41344429_41344432del	GRCh38
NC_000023.10:g.41203682_41203685del , CM000685.1:g.41203682_41203685del	GRCh37
NC_000023.9:g.41088626_41088629del	NCBI36
NG_012830.1:g.16032_16035del
NG_012830.2:g.16032_16035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1157+30_1157+33del	ENSP00000496052.2:n.1157+30_1157+33del
ENST00000399959.7:c.1022+30_1022+33del	ENSP00000382840.3:n.1022+30_1022+33del
ENST00000441189.4:c.926+30_926+33del	ENSP00000414281.3:n.926+30_926+33del
ENST00000457138.7:c.977+30_977+33del	ENSP00000392494.2:n.977+30_977+33del
ENST00000629496.3:c.1025+30_1025+33del	ENSP00000487224.1:n.1025+30_1025+33del
ENST00000631641.2:n.1098_1101del
ENST00000642161.1:n.3224+30_3224+33del
ENST00000642322.1:c.467+30_467+33del	ENSP00000496052.1:n.467+30_467+33del
ENST00000642424.1:c.467+30_467+33del	ENSP00000496356.1:n.467+30_467+33del
ENST00000642589.1:n.4347+30_4347+33del
ENST00000642597.1:n.1199+30_1199+33del
ENST00000642687.1:n.1058+30_1058+33del
ENST00000642722.1:n.1858+30_1858+33del
ENST00000642763.1:n.1916+30_1916+33del
ENST00000642793.1:c.*474+30_*474+33del	ENSP00000493976.1:n.*474+30_*474+33del
ENST00000642801.1:n.674+30_674+33del
ENST00000643820.1:n.301+30_301+33del
ENST00000643963.1:c.*307+30_*307+33del	ENSP00000495264.1:n.*307+30_*307+33del
ENST00000644073.1:c.983+30_983+33del	ENSP00000493475.1:n.983+30_983+33del
ENST00000644074.1:c.1022+30_1022+33del	ENSP00000496663.1:n.1022+30_1022+33del
ENST00000644109.1:c.1052_1055del	ENSP00000494952.1:p.Val351GlyfsTer?
ENST00000644307.1:n.1116+30_1116+33del
ENST00000644513.1:c.1025+30_1025+33del	ENSP00000493819.1:n.1025+30_1025+33del
ENST00000644677.1:c.908+30_908+33del	ENSP00000496524.1:n.908+30_908+33del
ENST00000644876.2:c.1025+30_1025+33del MANE Select	ENSP00000494040.1:n.1025+30_1025+33del
ENST00000644958.1:n.2686+30_2686+33del
ENST00000645080.1:c.*2247+30_*2247+33del	ENSP00000494767.1:n.*2247+30_*2247+33del
ENST00000645120.1:n.2520+30_2520+33del
ENST00000645338.1:n.1116+30_1116+33del
ENST00000645380.1:n.2410+30_2410+33del
ENST00000645561.1:n.2201+30_2201+33del
ENST00000645574.1:n.3889+30_3889+33del
ENST00000645589.1:c.1025+30_1025+33del	ENSP00000494588.1:n.1025+30_1025+33del
ENST00000646093.1:n.209+30_209+33del
ENST00000646107.1:c.908+30_908+33del	ENSP00000494518.1:n.908+30_908+33del
ENST00000646122.1:c.1025+30_1025+33del	ENSP00000496222.1:n.1025+30_1025+33del
ENST00000646196.1:n.1994+30_1994+33del
ENST00000646223.1:c.*1018+30_*1018+33del	ENSP00000496043.1:n.*1018+30_*1018+33del
ENST00000646319.1:c.1025+30_1025+33del	ENSP00000495377.1:n.1025+30_1025+33del
ENST00000646390.1:n.3313+30_3313+33del
ENST00000646627.1:c.467+30_467+33del	ENSP00000493795.1:n.467+30_467+33del
ENST00000646679.1:c.467+30_467+33del	ENSP00000494887.1:n.467+30_467+33del
ENST00000646822.1:n.2087+30_2087+33del
ENST00000646940.1:n.1199+30_1199+33del
ENST00000647286.1:n.1123+30_1123+33del
ENST00000399959.6:c.1025+30_1025+33del	ENSP00000382840.2:n.1025+30_1025+33del
ENST00000441189.3:c.340+1879_340+1882del	ENSP00000414281.2:n.340+1879_340+1882del
ENST00000457138.6:c.977+30_977+33del	ENSP00000392494.2:n.977+30_977+33del
ENST00000478993.5:c.1025+30_1025+33del	ENSP00000478443.1:n.1025+30_1025+33del
ENST00000542215.5:n.1073+30_1073+33del
ENST00000625837.2:c.1025+30_1025+33del	ENSP00000486306.1:n.1025+30_1025+33del
ENST00000626301.2:c.1025+30_1025+33del	ENSP00000486443.1:n.1025+30_1025+33del
ENST00000629496.2:c.1025+30_1025+33del	ENSP00000487224.1:n.1025+30_1025+33del
ENST00000629785.2:c.1025+30_1025+33del	ENSP00000486516.1:n.1025+30_1025+33del
ENST00000630255.2:c.1025+30_1025+33del	ENSP00000486720.1:n.1025+30_1025+33del
ENST00000630370.2:c.1025+30_1025+33del	ENSP00000487062.1:n.1025+30_1025+33del
ENST00000630858.2:c.1025+30_1025+33del	ENSP00000486514.1:n.1025+30_1025+33del
NM_001193416.2:c.1025+30_1025+33del	NP_001180345.1:n.1025+30_1025+33del
NM_001193417.2:c.977+30_977+33del	NP_001180346.1:n.977+30_977+33del
NM_001356.4:c.1025+30_1025+33del	NP_001347.3:n.1025+30_1025+33del
NR_126093.1:n.1970+30_1970+33del
XM_011543892.1:c.1025+30_1025+33del	XP_011542194.1:n.1025+30_1025+33del
NM_001363819.1:c.467+30_467+33del	NP_001350748.1:n.467+30_467+33del
XM_011543892.2:c.1025+30_1025+33del	XP_011542194.1:n.1025+30_1025+33del
XM_017029313.1:c.467+30_467+33del	XP_016884802.1:n.467+30_467+33del
NM_001193416.3:c.1025+30_1025+33del	NP_001180345.1:n.1025+30_1025+33del
NM_001193417.3:c.977+30_977+33del	NP_001180346.1:n.977+30_977+33del
NM_001356.5:c.1025+30_1025+33del MANE Select	NP_001347.3:n.1025+30_1025+33del