Canonical Allele Identifier: CA915950998

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 817366
• ClinVar RCV Id: RCV001008488
• dbSNP Id: rs1602136301

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346510_41346511insTGCT , CM000685.2:g.41346510_41346511insTGCT	GRCh38
NC_000023.10:g.41205763_41205764insTGCT , CM000685.1:g.41205763_41205764insTGCT	GRCh37
NC_000023.9:g.41090707_41090708insTGCT	NCBI36
NG_012830.1:g.18113_18114insTGCT
NG_012830.2:g.18113_18114insTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1635_1636insTGCT	ENSP00000496052.2:p.Ala546CysfsTer17
ENST00000399959.7:c.1500_1501insTGCT	ENSP00000382840.3:p.Ala501CysfsTer17
ENST00000441189.4:c.1404_1405insTGCT	ENSP00000414281.3:p.Ala469CysfsTer17
ENST00000457138.7:c.1455_1456insTGCT	ENSP00000392494.2:p.Ala486CysfsTer17
ENST00000611968.2:c.97_98insTGCT
ENST00000616050.3:c.251_252insTGCT
ENST00000629496.3:c.1503_1504insTGCT	ENSP00000487224.1:p.Ala502CysfsTer17
ENST00000642161.1:n.3702_3703insTGCT
ENST00000642322.1:c.945_946insTGCT	ENSP00000496052.1:p.Ala316CysfsTer17
ENST00000642424.1:c.945_946insTGCT	ENSP00000496356.1:p.Ala316CysfsTer17
ENST00000642589.1:n.4825_4826insTGCT
ENST00000642597.1:n.1677_1678insTGCT
ENST00000642687.1:n.1536_1537insTGCT
ENST00000642722.1:n.2336_2337insTGCT
ENST00000642763.1:n.2394_2395insTGCT
ENST00000642793.1:c.*952_*953insTGCT	ENSP00000493976.1:n.*952_*953insTGCT
ENST00000642801.1:n.1152_1153insTGCT
ENST00000643820.1:n.873_874insTGCT
ENST00000643963.1:c.*785_*786insTGCT	ENSP00000495264.1:n.*785_*786insTGCT
ENST00000644073.1:c.1461_1462insTGCT	ENSP00000493475.1:p.Ala488CysfsTer17
ENST00000644074.1:c.1500_1501insTGCT	ENSP00000496663.1:p.Ala501CysfsTer17
ENST00000644109.1:c.1665_1666insTGCT	ENSP00000494952.1:p.Ala556CysfsTer17
ENST00000644307.1:n.1673_1674insTGCT
ENST00000644513.1:c.1503_1504insTGCT	ENSP00000493819.1:p.Ala502CysfsTer17
ENST00000644677.1:c.1386_1387insTGCT	ENSP00000496524.1:p.Ala463CysfsTer17
ENST00000644876.2:c.1503_1504insTGCT MANE Select	ENSP00000494040.1:p.Ala502CysfsTer17
ENST00000644958.1:n.3164_3165insTGCT
ENST00000645080.1:c.*2725_*2726insTGCT	ENSP00000494767.1:n.*2725_*2726insTGCT
ENST00000645120.1:n.2998_2999insTGCT
ENST00000645338.1:n.1673_1674insTGCT
ENST00000645380.1:n.2967_2968insTGCT
ENST00000645561.1:n.2679_2680insTGCT
ENST00000645574.1:n.4367_4368insTGCT
ENST00000645589.1:c.*2_*3insTGCT	ENSP00000494588.1:n.*2_*3insTGCT
ENST00000646107.1:c.1386_1387insTGCT	ENSP00000494518.1:p.Ala463CysfsTer17
ENST00000646122.1:c.1503_1504insTGCT	ENSP00000496222.1:p.Ala502CysfsTer17
ENST00000646196.1:n.2472_2473insTGCT
ENST00000646223.1:c.*1496_*1497insTGCT	ENSP00000496043.1:n.*1496_*1497insTGCT
ENST00000646319.1:c.1503_1504insTGCT	ENSP00000495377.1:p.Ala502CysfsTer17
ENST00000646390.1:n.3791_3792insTGCT
ENST00000646627.1:c.945_946insTGCT	ENSP00000493795.1:p.Ala316CysfsTer17
ENST00000646679.1:c.945_946insTGCT	ENSP00000494887.1:p.Ala316CysfsTer17
ENST00000646822.1:n.2565_2566insTGCT
ENST00000646940.1:n.1677_1678insTGCT
ENST00000647286.1:n.1601_1602insTGCT
ENST00000647477.1:n.242_243insTGCT
ENST00000399959.6:c.1503_1504insTGCT	ENSP00000382840.2:p.Ala502CysfsTer17
ENST00000441189.3:c.341-1130_341-1129insTGCT	ENSP00000414281.2:n.341-1130_341-1129insTGCT
ENST00000457138.6:c.1455_1456insTGCT	ENSP00000392494.2:p.Ala486CysfsTer17
ENST00000478993.5:c.1503_1504insTGCT	ENSP00000478443.1:p.Ala502CysfsTer17
ENST00000542215.5:n.1551_1552insTGCT
ENST00000616050.2:c.56_57insTGCT
ENST00000625837.2:c.1503_1504insTGCT	ENSP00000486306.1:p.Ala502CysfsTer17
ENST00000626301.2:c.1503_1504insTGCT	ENSP00000486443.1:p.Ala502CysfsTer17
ENST00000629496.2:c.1503_1504insTGCT	ENSP00000487224.1:p.Ala502CysfsTer17
ENST00000629785.2:c.1503_1504insTGCT	ENSP00000486516.1:p.Ala502CysfsTer17
ENST00000630255.2:c.1503_1504insTGCT	ENSP00000486720.1:p.Ala502CysfsTer17
ENST00000630370.2:c.1503_1504insTGCT	ENSP00000487062.1:p.Ala502CysfsTer17
ENST00000630858.2:c.1503_1504insTGCT	ENSP00000486514.1:p.Ala502CysfsTer17
NM_001193416.2:c.1503_1504insTGCT	NP_001180345.1:p.Ala502CysfsTer17
NM_001193417.2:c.1455_1456insTGCT	NP_001180346.1:p.Ala486CysfsTer17
NM_001356.4:c.1503_1504insTGCT	NP_001347.3:p.Ala502CysfsTer17
NR_126093.1:n.2448_2449insTGCT
XM_011543892.1:c.1503_1504insTGCT	XP_011542194.1:p.Ala502CysfsTer17
NM_001363819.1:c.945_946insTGCT	NP_001350748.1:p.Ala316CysfsTer17
XM_011543892.2:c.1503_1504insTGCT	XP_011542194.1:p.Ala502CysfsTer17
XM_017029313.1:c.945_946insTGCT	XP_016884802.1:p.Ala316CysfsTer17
NM_001193416.3:c.1503_1504insTGCT	NP_001180345.1:p.Ala502CysfsTer17
NM_001193417.3:c.1455_1456insTGCT	NP_001180346.1:p.Ala486CysfsTer17
NM_001356.5:c.1503_1504insTGCT MANE Select	NP_001347.3:p.Ala502CysfsTer17