Canonical Allele Identifier: CA2570897376

Gene: DDX3X

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346603_41346606del , CM000685.2:g.41346603_41346606del	GRCh38
NC_000023.10:g.41205856_41205859del , CM000685.1:g.41205856_41205859del	GRCh37
NC_000023.9:g.41090800_41090803del	NCBI36
NG_012830.1:g.18206_18209del
NG_012830.2:g.18206_18209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1728_1731del	ENSP00000496052.2:p.Gly577ValfsTer2
ENST00000399959.7:c.1593_1596del	ENSP00000382840.3:p.Gly532ValfsTer2
ENST00000441189.4:c.1497_1500del	ENSP00000414281.3:p.Gly500ValfsTer2
ENST00000457138.7:c.1548_1551del	ENSP00000392494.2:p.Gly517ValfsTer2
ENST00000611968.2:c.190_193del
ENST00000616050.3:c.344_347del
ENST00000629496.3:c.1596_1599del	ENSP00000487224.1:p.Gly533ValfsTer2
ENST00000642161.1:n.3795_3798del
ENST00000642322.1:c.1038_1041del	ENSP00000496052.1:p.Gly347ValfsTer2
ENST00000642424.1:c.1038_1041del	ENSP00000496356.1:p.Gly347ValfsTer2
ENST00000642589.1:n.4918_4921del
ENST00000642597.1:n.1770_1773del
ENST00000642687.1:n.1629_1632del
ENST00000642722.1:n.2429_2432del
ENST00000642763.1:n.2487_2490del
ENST00000642793.1:c.*1045_*1048del	ENSP00000493976.1:n.*1045_*1048del
ENST00000642801.1:n.1245_1248del
ENST00000643820.1:n.966_969del
ENST00000643963.1:c.*878_*881del	ENSP00000495264.1:n.*878_*881del
ENST00000644073.1:c.1554_1557del	ENSP00000493475.1:p.Gly519ValfsTer2
ENST00000644074.1:c.1593_1596del	ENSP00000496663.1:p.Gly532ValfsTer2
ENST00000644109.1:c.1758_1761del	ENSP00000494952.1:p.Gly587ValfsTer2
ENST00000644307.1:n.1766_1769del
ENST00000644513.1:c.1596_1599del	ENSP00000493819.1:p.Gly533ValfsTer2
ENST00000644677.1:c.1479_1482del	ENSP00000496524.1:p.Gly494ValfsTer2
ENST00000644876.2:c.1596_1599del MANE Select	ENSP00000494040.1:p.Gly533ValfsTer2
ENST00000644958.1:n.3257_3260del
ENST00000645080.1:c.*2818_*2821del	ENSP00000494767.1:n.*2818_*2821del
ENST00000645120.1:n.3091_3094del
ENST00000645338.1:n.1766_1769del
ENST00000645380.1:n.3060_3063del
ENST00000645561.1:n.2772_2775del
ENST00000645574.1:n.4460_4463del
ENST00000645589.1:c.*95_*98del	ENSP00000494588.1:n.*95_*98del
ENST00000646107.1:c.1479_1482del	ENSP00000494518.1:p.Gly494ValfsTer2
ENST00000646122.1:c.1596_1599del	ENSP00000496222.1:p.Gly533ValfsTer2
ENST00000646196.1:n.2565_2568del
ENST00000646223.1:c.*1589_*1592del	ENSP00000496043.1:n.*1589_*1592del
ENST00000646319.1:c.1596_1599del	ENSP00000495377.1:p.Gly533ValfsTer2
ENST00000646390.1:n.3884_3887del
ENST00000646627.1:c.1038_1041del	ENSP00000493795.1:p.Gly347ValfsTer2
ENST00000646679.1:c.1038_1041del	ENSP00000494887.1:p.Gly347ValfsTer2
ENST00000646822.1:n.2658_2661del
ENST00000646940.1:n.1770_1773del
ENST00000647286.1:n.1694_1697del
ENST00000647477.1:n.335_338del
ENST00000399959.6:c.1596_1599del	ENSP00000382840.2:p.Gly533ValfsTer2
ENST00000441189.3:c.341-1037_341-1034del	ENSP00000414281.2:n.341-1037_341-1034del
ENST00000457138.6:c.1548_1551del	ENSP00000392494.2:p.Gly517ValfsTer2
ENST00000478993.5:c.1596_1599del	ENSP00000478443.1:p.Gly533ValfsTer2
ENST00000611968.1:c.38_41del
ENST00000616050.2:c.149_152del
ENST00000625837.2:c.1596_1599del	ENSP00000486306.1:p.Gly533ValfsTer2
ENST00000626301.2:c.1596_1599del	ENSP00000486443.1:p.Gly533ValfsTer2
ENST00000629496.2:c.1596_1599del	ENSP00000487224.1:p.Gly533ValfsTer2
ENST00000629785.2:c.1596_1599del	ENSP00000486516.1:p.Gly533ValfsTer2
ENST00000630255.2:c.1596_1599del	ENSP00000486720.1:p.Gly533ValfsTer2
ENST00000630370.2:c.1596_1599del	ENSP00000487062.1:p.Gly533ValfsTer2
ENST00000630858.2:c.1596_1599del	ENSP00000486514.1:p.Gly533ValfsTer2
NM_001193416.2:c.1596_1599del	NP_001180345.1:p.Gly533ValfsTer2
NM_001193417.2:c.1548_1551del	NP_001180346.1:p.Gly517ValfsTer2
NM_001356.4:c.1596_1599del	NP_001347.3:p.Gly533ValfsTer2
NR_126093.1:n.2541_2544del
XM_011543892.1:c.1596_1599del	XP_011542194.1:p.Gly533ValfsTer2
NM_001363819.1:c.1038_1041del	NP_001350748.1:p.Gly347ValfsTer2
XM_011543892.2:c.1596_1599del	XP_011542194.1:p.Gly533ValfsTer2
XM_017029313.1:c.1038_1041del	XP_016884802.1:p.Gly347ValfsTer2
NM_001193416.3:c.1596_1599del	NP_001180345.1:p.Gly533ValfsTer2
NM_001193417.3:c.1548_1551del	NP_001180346.1:p.Gly517ValfsTer2
NM_001356.5:c.1596_1599del MANE Select	NP_001347.3:p.Gly533ValfsTer2