Canonical Allele Identifier: CA2580101002

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 1802581
• ClinVar RCV Id: RCV002465420

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346352_41346353insTCTC , CM000685.2:g.41346352_41346353insTCTC	GRCh38
NC_000023.10:g.41205605_41205606insTCTC , CM000685.1:g.41205605_41205606insTCTC	GRCh37
NC_000023.9:g.41090549_41090550insTCTC	NCBI36
NG_012830.1:g.17955_17956insTCTC
NG_012830.2:g.17955_17956insTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1571_1572insTCTC	ENSP00000496052.2:p.Arg524SerfsTer?
ENST00000399959.7:c.1436_1437insTCTC	ENSP00000382840.3:p.Arg479SerfsTer?
ENST00000441189.4:c.1340_1341insTCTC	ENSP00000414281.3:p.Arg447SerfsTer?
ENST00000457138.7:c.1391_1392insTCTC	ENSP00000392494.2:p.Arg464SerfsTer?
ENST00000611968.2:c.33_34insTCTC
ENST00000616050.3:c.187_188insTCTC
ENST00000629496.3:c.1439_1440insTCTC	ENSP00000487224.1:p.Arg480SerfsTer?
ENST00000642161.1:n.3638_3639insTCTC
ENST00000642322.1:c.881_882insTCTC	ENSP00000496052.1:p.Arg294SerfsTer?
ENST00000642424.1:c.881_882insTCTC	ENSP00000496356.1:p.Arg294SerfsTer?
ENST00000642589.1:n.4761_4762insTCTC
ENST00000642597.1:n.1613_1614insTCTC
ENST00000642687.1:n.1472_1473insTCTC
ENST00000642722.1:n.2272_2273insTCTC
ENST00000642763.1:n.2330_2331insTCTC
ENST00000642793.1:c.*888_*889insTCTC	ENSP00000493976.1:n.*888_*889insTCTC
ENST00000642801.1:n.1088_1089insTCTC
ENST00000643820.1:n.715_716insTCTC
ENST00000643963.1:c.*721_*722insTCTC	ENSP00000495264.1:n.*721_*722insTCTC
ENST00000644073.1:c.1397_1398insTCTC	ENSP00000493475.1:p.Arg466SerfsTer?
ENST00000644074.1:c.1436_1437insTCTC	ENSP00000496663.1:p.Arg479SerfsTer?
ENST00000644109.1:c.1601_1602insTCTC	ENSP00000494952.1:p.Arg534SerfsTer?
ENST00000644307.1:n.1609_1610insTCTC
ENST00000644513.1:c.1439_1440insTCTC	ENSP00000493819.1:p.Arg480SerfsTer?
ENST00000644677.1:c.1322_1323insTCTC	ENSP00000496524.1:p.Arg441SerfsTer?
ENST00000644876.2:c.1439_1440insTCTC MANE Select	ENSP00000494040.1:p.Arg480SerfsTer?
ENST00000644958.1:n.3100_3101insTCTC
ENST00000645080.1:c.*2661_*2662insTCTC	ENSP00000494767.1:n.*2661_*2662insTCTC
ENST00000645120.1:n.2934_2935insTCTC
ENST00000645338.1:n.1609_1610insTCTC
ENST00000645380.1:n.2903_2904insTCTC
ENST00000645561.1:n.2615_2616insTCTC
ENST00000645574.1:n.4303_4304insTCTC
ENST00000645589.1:c.1439_1440insTCTC	ENSP00000494588.1:p.Arg480SerfsTer?
ENST00000646107.1:c.1322_1323insTCTC	ENSP00000494518.1:p.Arg441SerfsTer?
ENST00000646122.1:c.1439_1440insTCTC	ENSP00000496222.1:p.Arg480SerfsTer?
ENST00000646196.1:n.2408_2409insTCTC
ENST00000646223.1:c.*1432_*1433insTCTC	ENSP00000496043.1:n.*1432_*1433insTCTC
ENST00000646319.1:c.1439_1440insTCTC	ENSP00000495377.1:p.Arg480SerfsTer?
ENST00000646390.1:n.3727_3728insTCTC
ENST00000646627.1:c.881_882insTCTC	ENSP00000493795.1:p.Arg294SerfsTer?
ENST00000646679.1:c.881_882insTCTC	ENSP00000494887.1:p.Arg294SerfsTer?
ENST00000646822.1:n.2501_2502insTCTC
ENST00000646940.1:n.1613_1614insTCTC
ENST00000647286.1:n.1537_1538insTCTC
ENST00000647477.1:n.178_179insTCTC
ENST00000399959.6:c.1439_1440insTCTC	ENSP00000382840.2:p.Arg480SerfsTer?
ENST00000441189.3:c.341-1288_341-1287insTCTC	ENSP00000414281.2:n.341-1288_341-1287insTCTC
ENST00000457138.6:c.1391_1392insTCTC	ENSP00000392494.2:p.Arg464SerfsTer?
ENST00000478993.5:c.1439_1440insTCTC	ENSP00000478443.1:p.Arg480SerfsTer?
ENST00000542215.5:n.1487_1488insTCTC
ENST00000625837.2:c.1439_1440insTCTC	ENSP00000486306.1:p.Arg480SerfsTer?
ENST00000626301.2:c.1439_1440insTCTC	ENSP00000486443.1:p.Arg480SerfsTer?
ENST00000629496.2:c.1439_1440insTCTC	ENSP00000487224.1:p.Arg480SerfsTer?
ENST00000629785.2:c.1439_1440insTCTC	ENSP00000486516.1:p.Arg480SerfsTer?
ENST00000630255.2:c.1439_1440insTCTC	ENSP00000486720.1:p.Arg480SerfsTer?
ENST00000630370.2:c.1439_1440insTCTC	ENSP00000487062.1:p.Arg480SerfsTer?
ENST00000630858.2:c.1439_1440insTCTC	ENSP00000486514.1:p.Arg480SerfsTer?
NM_001193416.2:c.1439_1440insTCTC	NP_001180345.1:p.Arg480SerfsTer?
NM_001193417.2:c.1391_1392insTCTC	NP_001180346.1:p.Arg464SerfsTer?
NM_001356.4:c.1439_1440insTCTC	NP_001347.3:p.Arg480SerfsTer?
NR_126093.1:n.2384_2385insTCTC
XM_011543892.1:c.1439_1440insTCTC	XP_011542194.1:p.Arg480SerfsTer?
NM_001363819.1:c.881_882insTCTC	NP_001350748.1:p.Arg294SerfsTer?
XM_011543892.2:c.1439_1440insTCTC	XP_011542194.1:p.Arg480SerfsTer?
XM_017029313.1:c.881_882insTCTC	XP_016884802.1:p.Arg294SerfsTer?
NM_001193416.3:c.1439_1440insTCTC	NP_001180345.1:p.Arg480SerfsTer?
NM_001193417.3:c.1391_1392insTCTC	NP_001180346.1:p.Arg464SerfsTer?
NM_001356.5:c.1439_1440insTCTC MANE Select	NP_001347.3:p.Arg480SerfsTer?