Canonical Allele Identifier: CA641899913

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2838941
• ClinVar RCV Id: RCV003723233
• dbSNP Id: rs747987697
• gnomAD v2: X-41204641-ATTTT-A
• gnomAD v4: X-41345388-ATTTT-A
• MyVariant Identifiers: chrX:g.41204642_41204645del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345393_41345396del , CM000685.2:g.41345393_41345396del	GRCh38
NC_000023.10:g.41204646_41204649del , CM000685.1:g.41204646_41204649del	GRCh37
NC_000023.9:g.41089590_41089593del	NCBI36
NG_012830.1:g.16996_16999del
NG_012830.2:g.16996_16999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1303-11_1303-8del	ENSP00000496052.2:n.1303-11_1303-8del
ENST00000399959.7:c.1168-11_1168-8del	ENSP00000382840.3:n.1168-11_1168-8del
ENST00000441189.4:c.1072-11_1072-8del	ENSP00000414281.3:n.1072-11_1072-8del
ENST00000457138.7:c.1123-11_1123-8del	ENSP00000392494.2:n.1123-11_1123-8del
ENST00000629496.3:c.1171-11_1171-8del	ENSP00000487224.1:n.1171-11_1171-8del
ENST00000642161.1:n.3370-11_3370-8del
ENST00000642322.1:c.613-11_613-8del	ENSP00000496052.1:n.613-11_613-8del
ENST00000642424.1:c.613-11_613-8del	ENSP00000496356.1:n.613-11_613-8del
ENST00000642589.1:n.4493-11_4493-8del
ENST00000642597.1:n.1345-11_1345-8del
ENST00000642687.1:n.1204-11_1204-8del
ENST00000642722.1:n.2004-11_2004-8del
ENST00000642763.1:n.2062-11_2062-8del
ENST00000642793.1:c.*620-11_*620-8del	ENSP00000493976.1:n.*620-11_*620-8del
ENST00000642801.1:n.820-11_820-8del
ENST00000643820.1:n.447-11_447-8del
ENST00000643963.1:c.*453-11_*453-8del	ENSP00000495264.1:n.*453-11_*453-8del
ENST00000644073.1:c.1129-11_1129-8del	ENSP00000493475.1:n.1129-11_1129-8del
ENST00000644074.1:c.1168-11_1168-8del	ENSP00000496663.1:n.1168-11_1168-8del
ENST00000644109.1:c.1333-11_1333-8del	ENSP00000494952.1:n.1333-11_1333-8del
ENST00000644307.1:n.1330_1333del
ENST00000644513.1:c.1171-11_1171-8del	ENSP00000493819.1:n.1171-11_1171-8del
ENST00000644677.1:c.1054-11_1054-8del	ENSP00000496524.1:n.1054-11_1054-8del
ENST00000644876.2:c.1171-11_1171-8del MANE Select	ENSP00000494040.1:n.1171-11_1171-8del
ENST00000644958.1:n.2832-11_2832-8del
ENST00000645080.1:c.*2393-11_*2393-8del	ENSP00000494767.1:n.*2393-11_*2393-8del
ENST00000645120.1:n.2666-11_2666-8del
ENST00000645338.1:n.1330_1333del
ENST00000645380.1:n.2624_2627del
ENST00000645561.1:n.2347-11_2347-8del
ENST00000645574.1:n.4035-11_4035-8del
ENST00000645589.1:c.1171-11_1171-8del	ENSP00000494588.1:n.1171-11_1171-8del
ENST00000646093.1:n.355-11_355-8del
ENST00000646107.1:c.1054-11_1054-8del	ENSP00000494518.1:n.1054-11_1054-8del
ENST00000646122.1:c.1171-11_1171-8del	ENSP00000496222.1:n.1171-11_1171-8del
ENST00000646196.1:n.2140-11_2140-8del
ENST00000646223.1:c.*1164-11_*1164-8del	ENSP00000496043.1:n.*1164-11_*1164-8del
ENST00000646319.1:c.1171-11_1171-8del	ENSP00000495377.1:n.1171-11_1171-8del
ENST00000646390.1:n.3459-11_3459-8del
ENST00000646627.1:c.613-11_613-8del	ENSP00000493795.1:n.613-11_613-8del
ENST00000646679.1:c.613-11_613-8del	ENSP00000494887.1:n.613-11_613-8del
ENST00000646822.1:n.2233-11_2233-8del
ENST00000646940.1:n.1345-11_1345-8del
ENST00000647286.1:n.1269-11_1269-8del
ENST00000399959.6:c.1171-11_1171-8del	ENSP00000382840.2:n.1171-11_1171-8del
ENST00000441189.3:c.341-2247_341-2244del	ENSP00000414281.2:n.341-2247_341-2244del
ENST00000457138.6:c.1123-11_1123-8del	ENSP00000392494.2:n.1123-11_1123-8del
ENST00000478993.5:c.1171-11_1171-8del	ENSP00000478443.1:n.1171-11_1171-8del
ENST00000542215.5:n.1219-11_1219-8del
ENST00000625837.2:c.1171-11_1171-8del	ENSP00000486306.1:n.1171-11_1171-8del
ENST00000626301.2:c.1171-11_1171-8del	ENSP00000486443.1:n.1171-11_1171-8del
ENST00000629496.2:c.1171-11_1171-8del	ENSP00000487224.1:n.1171-11_1171-8del
ENST00000629785.2:c.1171-11_1171-8del	ENSP00000486516.1:n.1171-11_1171-8del
ENST00000630255.2:c.1171-11_1171-8del	ENSP00000486720.1:n.1171-11_1171-8del
ENST00000630370.2:c.1171-11_1171-8del	ENSP00000487062.1:n.1171-11_1171-8del
ENST00000630858.2:c.1171-11_1171-8del	ENSP00000486514.1:n.1171-11_1171-8del
NM_001193416.2:c.1171-11_1171-8del	NP_001180345.1:n.1171-11_1171-8del
NM_001193417.2:c.1123-11_1123-8del	NP_001180346.1:n.1123-11_1123-8del
NM_001356.4:c.1171-11_1171-8del	NP_001347.3:n.1171-11_1171-8del
NR_126093.1:n.2116-11_2116-8del
XM_011543892.1:c.1171-11_1171-8del	XP_011542194.1:n.1171-11_1171-8del
NM_001363819.1:c.613-11_613-8del	NP_001350748.1:n.613-11_613-8del
XM_011543892.2:c.1171-11_1171-8del	XP_011542194.1:n.1171-11_1171-8del
XM_017029313.1:c.613-11_613-8del	XP_016884802.1:n.613-11_613-8del
NM_001193416.3:c.1171-11_1171-8del	NP_001180345.1:n.1171-11_1171-8del
NM_001193417.3:c.1123-11_1123-8del	NP_001180346.1:n.1123-11_1123-8del
NM_001356.5:c.1171-11_1171-8del MANE Select	NP_001347.3:n.1171-11_1171-8del