Canonical Allele Identifier: CA875368027

Gene: DDX3X

Linked Data

• dbSNP Id: rs1161354448
• gnomAD v3: X-41345376-GTAA-G
• gnomAD v4: X-41345376-GTAA-G
• MyVariant Identifiers: chrX:g.41204630_41204632del (hg19) ; chrX:g.41345377_41345379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345383_41345385del , CM000685.2:g.41345383_41345385del	GRCh38
NC_000023.10:g.41204636_41204638del , CM000685.1:g.41204636_41204638del	GRCh37
NC_000023.9:g.41089580_41089582del	NCBI36
NG_012830.1:g.16986_16988del
NG_012830.2:g.16986_16988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642322.2:c.1303-21_1303-19del	ENSP00000496052.2:n.1303-21_1303-19del
ENST00000399959.7:c.1168-21_1168-19del	ENSP00000382840.3:n.1168-21_1168-19del
ENST00000441189.4:c.1072-21_1072-19del	ENSP00000414281.3:n.1072-21_1072-19del
ENST00000457138.7:c.1123-21_1123-19del	ENSP00000392494.2:n.1123-21_1123-19del
ENST00000629496.3:c.1171-21_1171-19del	ENSP00000487224.1:n.1171-21_1171-19del
ENST00000642161.1:n.3370-21_3370-19del
ENST00000642322.1:c.613-21_613-19del	ENSP00000496052.1:n.613-21_613-19del
ENST00000642424.1:c.613-21_613-19del	ENSP00000496356.1:n.613-21_613-19del
ENST00000642589.1:n.4493-21_4493-19del
ENST00000642597.1:n.1345-21_1345-19del
ENST00000642687.1:n.1204-21_1204-19del
ENST00000642722.1:n.2004-21_2004-19del
ENST00000642763.1:n.2062-21_2062-19del
ENST00000642793.1:c.*620-21_*620-19del	ENSP00000493976.1:n.*620-21_*620-19del
ENST00000642801.1:n.820-21_820-19del
ENST00000643820.1:n.447-21_447-19del
ENST00000643963.1:c.*453-21_*453-19del	ENSP00000495264.1:n.*453-21_*453-19del
ENST00000644073.1:c.1129-21_1129-19del	ENSP00000493475.1:n.1129-21_1129-19del
ENST00000644074.1:c.1168-21_1168-19del	ENSP00000496663.1:n.1168-21_1168-19del
ENST00000644109.1:c.1333-21_1333-19del	ENSP00000494952.1:n.1333-21_1333-19del
ENST00000644307.1:n.1320_1322del
ENST00000644513.1:c.1171-21_1171-19del	ENSP00000493819.1:n.1171-21_1171-19del
ENST00000644677.1:c.1054-21_1054-19del	ENSP00000496524.1:n.1054-21_1054-19del
ENST00000644876.2:c.1171-21_1171-19del MANE Select	ENSP00000494040.1:n.1171-21_1171-19del
ENST00000644958.1:n.2832-21_2832-19del
ENST00000645080.1:c.*2393-21_*2393-19del	ENSP00000494767.1:n.*2393-21_*2393-19del
ENST00000645120.1:n.2666-21_2666-19del
ENST00000645338.1:n.1320_1322del
ENST00000645380.1:n.2614_2616del
ENST00000645561.1:n.2347-21_2347-19del
ENST00000645574.1:n.4035-21_4035-19del
ENST00000645589.1:c.1171-21_1171-19del	ENSP00000494588.1:n.1171-21_1171-19del
ENST00000646093.1:n.355-21_355-19del
ENST00000646107.1:c.1054-21_1054-19del	ENSP00000494518.1:n.1054-21_1054-19del
ENST00000646122.1:c.1171-21_1171-19del	ENSP00000496222.1:n.1171-21_1171-19del
ENST00000646196.1:n.2140-21_2140-19del
ENST00000646223.1:c.*1164-21_*1164-19del	ENSP00000496043.1:n.*1164-21_*1164-19del
ENST00000646319.1:c.1171-21_1171-19del	ENSP00000495377.1:n.1171-21_1171-19del
ENST00000646390.1:n.3459-21_3459-19del
ENST00000646627.1:c.613-21_613-19del	ENSP00000493795.1:n.613-21_613-19del
ENST00000646679.1:c.613-21_613-19del	ENSP00000494887.1:n.613-21_613-19del
ENST00000646822.1:n.2233-21_2233-19del
ENST00000646940.1:n.1345-21_1345-19del
ENST00000647286.1:n.1269-21_1269-19del
ENST00000399959.6:c.1171-21_1171-19del	ENSP00000382840.2:n.1171-21_1171-19del
ENST00000441189.3:c.341-2257_341-2255del	ENSP00000414281.2:n.341-2257_341-2255del
ENST00000457138.6:c.1123-21_1123-19del	ENSP00000392494.2:n.1123-21_1123-19del
ENST00000478993.5:c.1171-21_1171-19del	ENSP00000478443.1:n.1171-21_1171-19del
ENST00000542215.5:n.1219-21_1219-19del
ENST00000625837.2:c.1171-21_1171-19del	ENSP00000486306.1:n.1171-21_1171-19del
ENST00000626301.2:c.1171-21_1171-19del	ENSP00000486443.1:n.1171-21_1171-19del
ENST00000629496.2:c.1171-21_1171-19del	ENSP00000487224.1:n.1171-21_1171-19del
ENST00000629785.2:c.1171-21_1171-19del	ENSP00000486516.1:n.1171-21_1171-19del
ENST00000630255.2:c.1171-21_1171-19del	ENSP00000486720.1:n.1171-21_1171-19del
ENST00000630370.2:c.1171-21_1171-19del	ENSP00000487062.1:n.1171-21_1171-19del
ENST00000630858.2:c.1171-21_1171-19del	ENSP00000486514.1:n.1171-21_1171-19del
NM_001193416.2:c.1171-21_1171-19del	NP_001180345.1:n.1171-21_1171-19del
NM_001193417.2:c.1123-21_1123-19del	NP_001180346.1:n.1123-21_1123-19del
NM_001356.4:c.1171-21_1171-19del	NP_001347.3:n.1171-21_1171-19del
NR_126093.1:n.2116-21_2116-19del
XM_011543892.1:c.1171-21_1171-19del	XP_011542194.1:n.1171-21_1171-19del
NM_001363819.1:c.613-21_613-19del	NP_001350748.1:n.613-21_613-19del
XM_011543892.2:c.1171-21_1171-19del	XP_011542194.1:n.1171-21_1171-19del
XM_017029313.1:c.613-21_613-19del	XP_016884802.1:n.613-21_613-19del
NM_001193416.3:c.1171-21_1171-19del	NP_001180345.1:n.1171-21_1171-19del
NM_001193417.3:c.1123-21_1123-19del	NP_001180346.1:n.1123-21_1123-19del
NM_001356.5:c.1171-21_1171-19del MANE Select	NP_001347.3:n.1171-21_1171-19del