Canonical Allele Identifier: CA658799715

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 503738
• ClinVar RCV Id: RCV000599287 ; RCV001255961 ; RCV001260756
• dbSNP Id: rs1555954380
• MyVariant Identifiers: chrX:g.41206174_41206176del (hg19) ; chrX:g.41346921_41346923del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346921_41346923del , CM000685.2:g.41346921_41346923del	GRCh38
NC_000023.10:g.41206174_41206176del , CM000685.1:g.41206174_41206176del	GRCh37
NC_000023.9:g.41091118_41091120del	NCBI36
NG_012830.1:g.18524_18526del
NG_012830.2:g.18524_18526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1810_1812del	ENSP00000496052.2:p.Leu604del
ENST00000399959.7:c.1675_1677del	ENSP00000382840.3:p.Leu559del
ENST00000441189.4:c.1579_1581del	ENSP00000414281.3:p.Leu527del
ENST00000457138.7:c.1630_1632del	ENSP00000392494.2:p.Leu544del
ENST00000611968.2:c.272_274del
ENST00000616050.3:c.426_428del
ENST00000629496.3:c.1678_1680del	ENSP00000487224.1:p.Leu560del
ENST00000642161.1:n.3877_3879del
ENST00000642322.1:c.1120_1122del	ENSP00000496052.1:p.Leu374del
ENST00000642424.1:c.1120_1122del	ENSP00000496356.1:p.Leu374del
ENST00000642589.1:n.5000_5002del
ENST00000642597.1:n.1852_1854del
ENST00000642687.1:n.1711_1713del
ENST00000642722.1:n.2511_2513del
ENST00000642763.1:n.2569_2571del
ENST00000642793.1:c.*1127_*1129del	ENSP00000493976.1:n.*1127_*1129del
ENST00000642801.1:n.1327_1329del
ENST00000643820.1:n.1048_1050del
ENST00000643963.1:c.*960_*962del	ENSP00000495264.1:n.*960_*962del
ENST00000644073.1:c.1636_1638del	ENSP00000493475.1:p.Leu546del
ENST00000644074.1:c.1675_1677del	ENSP00000496663.1:p.Leu559del
ENST00000644109.1:c.1840_1842del	ENSP00000494952.1:p.Leu614del
ENST00000644307.1:n.1848_1850del
ENST00000644513.1:c.1678_1680del	ENSP00000493819.1:p.Leu560del
ENST00000644677.1:c.1561_1563del	ENSP00000496524.1:p.Leu521del
ENST00000644876.2:c.1678_1680del MANE Select	ENSP00000494040.1:p.Leu560del
ENST00000644958.1:n.3339_3341del
ENST00000645080.1:c.*2900_*2902del	ENSP00000494767.1:n.*2900_*2902del
ENST00000645120.1:n.3173_3175del
ENST00000645338.1:n.1848_1850del
ENST00000645380.1:n.3142_3144del
ENST00000645561.1:n.2854_2856del
ENST00000645574.1:n.4542_4544del
ENST00000645589.1:c.*177_*179del	ENSP00000494588.1:n.*177_*179del
ENST00000646107.1:c.1561_1563del	ENSP00000494518.1:p.Leu521del
ENST00000646122.1:c.1678_1680del	ENSP00000496222.1:p.Leu560del
ENST00000646196.1:n.2647_2649del
ENST00000646223.1:c.*1671_*1673del	ENSP00000496043.1:n.*1671_*1673del
ENST00000646319.1:c.1678_1680del	ENSP00000495377.1:p.Leu560del
ENST00000646390.1:n.3966_3968del
ENST00000646627.1:c.1120_1122del	ENSP00000493795.1:p.Leu374del
ENST00000646679.1:c.1120_1122del	ENSP00000494887.1:p.Leu374del
ENST00000646822.1:n.2740_2742del
ENST00000646940.1:n.1852_1854del
ENST00000647286.1:n.1776_1778del
ENST00000647477.1:n.417_419del
ENST00000399959.6:c.1678_1680del	ENSP00000382840.2:p.Leu560del
ENST00000441189.3:c.341-719_341-717del	ENSP00000414281.2:n.341-719_341-717del
ENST00000457138.6:c.1630_1632del	ENSP00000392494.2:p.Leu544del
ENST00000478993.5:c.1678_1680del	ENSP00000478443.1:p.Leu560del
ENST00000611968.1:c.120_122del
ENST00000616050.2:c.231_233del
ENST00000625837.2:c.1678_1680del	ENSP00000486306.1:p.Leu560del
ENST00000626301.2:c.1678_1680del	ENSP00000486443.1:p.Leu560del
ENST00000629496.2:c.1678_1680del	ENSP00000487224.1:p.Leu560del
ENST00000629785.2:c.1678_1680del	ENSP00000486516.1:p.Leu560del
ENST00000630255.2:c.1678_1680del	ENSP00000486720.1:p.Leu560del
ENST00000630370.2:c.1678_1680del	ENSP00000487062.1:p.Leu560del
ENST00000630858.2:c.1678_1680del	ENSP00000486514.1:p.Leu560del
NM_001193416.2:c.1678_1680del	NP_001180345.1:p.Leu560del
NM_001193417.2:c.1630_1632del	NP_001180346.1:p.Leu544del
NM_001356.4:c.1678_1680del	NP_001347.3:p.Leu560del
NR_126093.1:n.2623_2625del
XM_011543892.1:c.1678_1680del	XP_011542194.1:p.Leu560del
NM_001363819.1:c.1120_1122del	NP_001350748.1:p.Leu374del
XM_011543892.2:c.1678_1680del	XP_011542194.1:p.Leu560del
XM_017029313.1:c.1120_1122del	XP_016884802.1:p.Leu374del
NM_001193416.3:c.1678_1680del	NP_001180345.1:p.Leu560del
NM_001193417.3:c.1630_1632del	NP_001180346.1:p.Leu544del
NM_001356.5:c.1678_1680del MANE Select	NP_001347.3:p.Leu560del