Canonical Allele Identifier: CA10389543

Gene: DDX3X

Linked Data

• dbSNP Id: rs755628253
• ExAC: X:41203701 TTTG / T
• gnomAD v2: X-41203701-TTTG-T
• gnomAD v4: X-41344448-TTTG-T
• MyVariant Identifiers: chrX:g.41203702_41203704del (hg19) ; chrX:g.41344449_41344451del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41344451_41344453del , CM000685.2:g.41344451_41344453del	GRCh38
NC_000023.10:g.41203704_41203706del , CM000685.1:g.41203704_41203706del	GRCh37
NC_000023.9:g.41088648_41088650del	NCBI36
NG_012830.1:g.16054_16056del
NG_012830.2:g.16054_16056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1157+52_1157+54del	ENSP00000496052.2:n.1157+52_1157+54del
ENST00000399959.7:c.1022+52_1022+54del	ENSP00000382840.3:n.1022+52_1022+54del
ENST00000441189.4:c.926+52_926+54del	ENSP00000414281.3:n.926+52_926+54del
ENST00000457138.7:c.977+52_977+54del	ENSP00000392494.2:n.977+52_977+54del
ENST00000629496.3:c.1025+52_1025+54del	ENSP00000487224.1:n.1025+52_1025+54del
ENST00000631641.2:n.1120_1122del
ENST00000642161.1:n.3224+52_3224+54del
ENST00000642322.1:c.467+52_467+54del	ENSP00000496052.1:n.467+52_467+54del
ENST00000642424.1:c.467+52_467+54del	ENSP00000496356.1:n.467+52_467+54del
ENST00000642589.1:n.4347+52_4347+54del
ENST00000642597.1:n.1199+52_1199+54del
ENST00000642687.1:n.1058+52_1058+54del
ENST00000642722.1:n.1858+52_1858+54del
ENST00000642763.1:n.1916+52_1916+54del
ENST00000642793.1:c.*474+52_*474+54del	ENSP00000493976.1:n.*474+52_*474+54del
ENST00000642801.1:n.674+52_674+54del
ENST00000643820.1:n.301+52_301+54del
ENST00000643963.1:c.*307+52_*307+54del	ENSP00000495264.1:n.*307+52_*307+54del
ENST00000644073.1:c.983+52_983+54del	ENSP00000493475.1:n.983+52_983+54del
ENST00000644074.1:c.1022+52_1022+54del	ENSP00000496663.1:n.1022+52_1022+54del
ENST00000644109.1:c.1074_1076del	ENSP00000494952.1:p.Leu358del
ENST00000644307.1:n.1116+52_1116+54del
ENST00000644513.1:c.1025+52_1025+54del	ENSP00000493819.1:n.1025+52_1025+54del
ENST00000644677.1:c.908+52_908+54del	ENSP00000496524.1:n.908+52_908+54del
ENST00000644876.2:c.1025+52_1025+54del MANE Select	ENSP00000494040.1:n.1025+52_1025+54del
ENST00000644958.1:n.2686+52_2686+54del
ENST00000645080.1:c.*2247+52_*2247+54del	ENSP00000494767.1:n.*2247+52_*2247+54del
ENST00000645120.1:n.2520+52_2520+54del
ENST00000645338.1:n.1116+52_1116+54del
ENST00000645380.1:n.2410+52_2410+54del
ENST00000645561.1:n.2201+52_2201+54del
ENST00000645574.1:n.3889+52_3889+54del
ENST00000645589.1:c.1025+52_1025+54del	ENSP00000494588.1:n.1025+52_1025+54del
ENST00000646093.1:n.209+52_209+54del
ENST00000646107.1:c.908+52_908+54del	ENSP00000494518.1:n.908+52_908+54del
ENST00000646122.1:c.1025+52_1025+54del	ENSP00000496222.1:n.1025+52_1025+54del
ENST00000646196.1:n.1994+52_1994+54del
ENST00000646223.1:c.*1018+52_*1018+54del	ENSP00000496043.1:n.*1018+52_*1018+54del
ENST00000646319.1:c.1025+52_1025+54del	ENSP00000495377.1:n.1025+52_1025+54del
ENST00000646390.1:n.3313+52_3313+54del
ENST00000646627.1:c.467+52_467+54del	ENSP00000493795.1:n.467+52_467+54del
ENST00000646679.1:c.467+52_467+54del	ENSP00000494887.1:n.467+52_467+54del
ENST00000646822.1:n.2087+52_2087+54del
ENST00000646940.1:n.1199+52_1199+54del
ENST00000647286.1:n.1123+52_1123+54del
ENST00000399959.6:c.1025+52_1025+54del	ENSP00000382840.2:n.1025+52_1025+54del
ENST00000441189.3:c.340+1901_340+1903del	ENSP00000414281.2:n.340+1901_340+1903del
ENST00000457138.6:c.977+52_977+54del	ENSP00000392494.2:n.977+52_977+54del
ENST00000478993.5:c.1025+52_1025+54del	ENSP00000478443.1:n.1025+52_1025+54del
ENST00000542215.5:n.1073+52_1073+54del
ENST00000625837.2:c.1025+52_1025+54del	ENSP00000486306.1:n.1025+52_1025+54del
ENST00000626301.2:c.1025+52_1025+54del	ENSP00000486443.1:n.1025+52_1025+54del
ENST00000629496.2:c.1025+52_1025+54del	ENSP00000487224.1:n.1025+52_1025+54del
ENST00000629785.2:c.1025+52_1025+54del	ENSP00000486516.1:n.1025+52_1025+54del
ENST00000630255.2:c.1025+52_1025+54del	ENSP00000486720.1:n.1025+52_1025+54del
ENST00000630370.2:c.1025+52_1025+54del	ENSP00000487062.1:n.1025+52_1025+54del
ENST00000630858.2:c.1025+52_1025+54del	ENSP00000486514.1:n.1025+52_1025+54del
NM_001193416.2:c.1025+52_1025+54del	NP_001180345.1:n.1025+52_1025+54del
NM_001193417.2:c.977+52_977+54del	NP_001180346.1:n.977+52_977+54del
NM_001356.4:c.1025+52_1025+54del	NP_001347.3:n.1025+52_1025+54del
NR_126093.1:n.1970+52_1970+54del
XM_011543892.1:c.1025+52_1025+54del	XP_011542194.1:n.1025+52_1025+54del
NM_001363819.1:c.467+52_467+54del	NP_001350748.1:n.467+52_467+54del
XM_011543892.2:c.1025+52_1025+54del	XP_011542194.1:n.1025+52_1025+54del
XM_017029313.1:c.467+52_467+54del	XP_016884802.1:n.467+52_467+54del
NM_001193416.3:c.1025+52_1025+54del	NP_001180345.1:n.1025+52_1025+54del
NM_001193417.3:c.977+52_977+54del	NP_001180346.1:n.977+52_977+54del
NM_001356.5:c.1025+52_1025+54del MANE Select	NP_001347.3:n.1025+52_1025+54del