Canonical Allele Identifier: CA2580100998

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1706558
• ClinVar RCV Id: RCV002285113

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346308_41346312del , CM000685.2:g.41346308_41346312del	GRCh38
NC_000023.10:g.41205561_41205565del , CM000685.1:g.41205561_41205565del	GRCh37
NC_000023.9:g.41090505_41090509del	NCBI36
NG_012830.1:g.17911_17915del
NG_012830.2:g.17911_17915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1527_1531del	ENSP00000496052.2:p.Tyr510MetfsTer13
ENST00000399959.7:c.1392_1396del	ENSP00000382840.3:p.Tyr465MetfsTer13
ENST00000441189.4:c.1296_1300del	ENSP00000414281.3:p.Tyr433MetfsTer13
ENST00000457138.7:c.1347_1351del	ENSP00000392494.2:p.Tyr450MetfsTer13
ENST00000616050.3:c.143_147del
ENST00000629496.3:c.1395_1399del	ENSP00000487224.1:p.Tyr466MetfsTer13
ENST00000642161.1:n.3594_3598del
ENST00000642322.1:c.837_841del	ENSP00000496052.1:p.Tyr280MetfsTer13
ENST00000642424.1:c.837_841del	ENSP00000496356.1:p.Tyr280MetfsTer13
ENST00000642589.1:n.4717_4721del
ENST00000642597.1:n.1569_1573del
ENST00000642687.1:n.1428_1432del
ENST00000642722.1:n.2228_2232del
ENST00000642763.1:n.2286_2290del
ENST00000642793.1:c.*844_*848del	ENSP00000493976.1:n.*844_*848del
ENST00000642801.1:n.1044_1048del
ENST00000643820.1:n.671_675del
ENST00000643963.1:c.*677_*681del	ENSP00000495264.1:n.*677_*681del
ENST00000644073.1:c.1353_1357del	ENSP00000493475.1:p.Tyr452MetfsTer13
ENST00000644074.1:c.1392_1396del	ENSP00000496663.1:p.Tyr465MetfsTer13
ENST00000644109.1:c.1557_1561del	ENSP00000494952.1:p.Tyr520MetfsTer13
ENST00000644307.1:n.1565_1569del
ENST00000644513.1:c.1395_1399del	ENSP00000493819.1:p.Tyr466MetfsTer13
ENST00000644677.1:c.1278_1282del	ENSP00000496524.1:p.Tyr427MetfsTer13
ENST00000644876.2:c.1395_1399del MANE Select	ENSP00000494040.1:p.Tyr466MetfsTer13
ENST00000644958.1:n.3056_3060del
ENST00000645080.1:c.*2617_*2621del	ENSP00000494767.1:n.*2617_*2621del
ENST00000645120.1:n.2890_2894del
ENST00000645338.1:n.1565_1569del
ENST00000645380.1:n.2859_2863del
ENST00000645561.1:n.2571_2575del
ENST00000645574.1:n.4259_4263del
ENST00000645589.1:c.1395_1399del	ENSP00000494588.1:p.Tyr466MetfsTer13
ENST00000646107.1:c.1278_1282del	ENSP00000494518.1:p.Tyr427MetfsTer13
ENST00000646122.1:c.1395_1399del	ENSP00000496222.1:p.Tyr466MetfsTer13
ENST00000646196.1:n.2364_2368del
ENST00000646223.1:c.*1388_*1392del	ENSP00000496043.1:n.*1388_*1392del
ENST00000646319.1:c.1395_1399del	ENSP00000495377.1:p.Tyr466MetfsTer13
ENST00000646390.1:n.3683_3687del
ENST00000646627.1:c.837_841del	ENSP00000493795.1:p.Tyr280MetfsTer13
ENST00000646679.1:c.837_841del	ENSP00000494887.1:p.Tyr280MetfsTer13
ENST00000646822.1:n.2457_2461del
ENST00000646940.1:n.1569_1573del
ENST00000647286.1:n.1493_1497del
ENST00000647477.1:n.134_138del
ENST00000399959.6:c.1395_1399del	ENSP00000382840.2:p.Tyr466MetfsTer13
ENST00000441189.3:c.341-1332_341-1328del	ENSP00000414281.2:n.341-1332_341-1328del
ENST00000457138.6:c.1347_1351del	ENSP00000392494.2:p.Tyr450MetfsTer13
ENST00000478993.5:c.1395_1399del	ENSP00000478443.1:p.Tyr466MetfsTer13
ENST00000542215.5:n.1443_1447del
ENST00000625837.2:c.1395_1399del	ENSP00000486306.1:p.Tyr466MetfsTer13
ENST00000626301.2:c.1395_1399del	ENSP00000486443.1:p.Tyr466MetfsTer13
ENST00000629496.2:c.1395_1399del	ENSP00000487224.1:p.Tyr466MetfsTer13
ENST00000629785.2:c.1395_1399del	ENSP00000486516.1:p.Tyr466MetfsTer13
ENST00000630255.2:c.1395_1399del	ENSP00000486720.1:p.Tyr466MetfsTer13
ENST00000630370.2:c.1395_1399del	ENSP00000487062.1:p.Tyr466MetfsTer13
ENST00000630858.2:c.1395_1399del	ENSP00000486514.1:p.Tyr466MetfsTer13
NM_001193416.2:c.1395_1399del	NP_001180345.1:p.Tyr466MetfsTer13
NM_001193417.2:c.1347_1351del	NP_001180346.1:p.Tyr450MetfsTer13
NM_001356.4:c.1395_1399del	NP_001347.3:p.Tyr466MetfsTer13
NR_126093.1:n.2340_2344del
XM_011543892.1:c.1395_1399del	XP_011542194.1:p.Tyr466MetfsTer13
NM_001363819.1:c.837_841del	NP_001350748.1:p.Tyr280MetfsTer13
XM_011543892.2:c.1395_1399del	XP_011542194.1:p.Tyr466MetfsTer13
XM_017029313.1:c.837_841del	XP_016884802.1:p.Tyr280MetfsTer13
NM_001193416.3:c.1395_1399del	NP_001180345.1:p.Tyr466MetfsTer13
NM_001193417.3:c.1347_1351del	NP_001180346.1:p.Tyr450MetfsTer13
NM_001356.5:c.1395_1399del MANE Select	NP_001347.3:p.Tyr466MetfsTer13