Canonical Allele Identifier: CA329020946

Gene: DDX3X

Linked Data

• dbSNP Id: rs889597876
• gnomAD v2: X-41204358-AAC-A
• gnomAD v3: X-41345105-AAC-A
• gnomAD v4: X-41345105-AAC-A
• MyVariant Identifiers: chrX:g.41204359_41204360del (hg19) ; chrX:g.41345106_41345107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345107_41345108del , CM000685.2:g.41345107_41345108del	GRCh38
NC_000023.10:g.41204360_41204361del , CM000685.1:g.41204360_41204361del	GRCh37
NC_000023.9:g.41089304_41089305del	NCBI36
NG_012830.1:g.16710_16711del
NG_012830.2:g.16710_16711del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1158-73_1158-72del	ENSP00000496052.2:n.1158-73_1158-72del
ENST00000399959.7:c.1023-73_1023-72del	ENSP00000382840.3:n.1023-73_1023-72del
ENST00000441189.4:c.927-73_927-72del	ENSP00000414281.3:n.927-73_927-72del
ENST00000457138.7:c.978-73_978-72del	ENSP00000392494.2:n.978-73_978-72del
ENST00000629496.3:c.1026-73_1026-72del	ENSP00000487224.1:n.1026-73_1026-72del
ENST00000642161.1:n.3225-73_3225-72del
ENST00000642322.1:c.468-73_468-72del	ENSP00000496052.1:n.468-73_468-72del
ENST00000642424.1:c.468-73_468-72del	ENSP00000496356.1:n.468-73_468-72del
ENST00000642589.1:n.4348-73_4348-72del
ENST00000642597.1:n.1200-73_1200-72del
ENST00000642687.1:n.1059-73_1059-72del
ENST00000642722.1:n.1859-73_1859-72del
ENST00000642763.1:n.1917-73_1917-72del
ENST00000642793.1:c.*475-73_*475-72del	ENSP00000493976.1:n.*475-73_*475-72del
ENST00000642801.1:n.675-73_675-72del
ENST00000643820.1:n.302-73_302-72del
ENST00000643963.1:c.*308-73_*308-72del	ENSP00000495264.1:n.*308-73_*308-72del
ENST00000644073.1:c.984-73_984-72del	ENSP00000493475.1:n.984-73_984-72del
ENST00000644074.1:c.1023-73_1023-72del	ENSP00000496663.1:n.1023-73_1023-72del
ENST00000644109.1:c.1188-73_1188-72del	ENSP00000494952.1:n.1188-73_1188-72del
ENST00000644307.1:n.1117-73_1117-72del
ENST00000644513.1:c.1026-73_1026-72del	ENSP00000493819.1:n.1026-73_1026-72del
ENST00000644677.1:c.909-73_909-72del	ENSP00000496524.1:n.909-73_909-72del
ENST00000644876.2:c.1026-73_1026-72del MANE Select	ENSP00000494040.1:n.1026-73_1026-72del
ENST00000644958.1:n.2687-73_2687-72del
ENST00000645080.1:c.*2248-73_*2248-72del	ENSP00000494767.1:n.*2248-73_*2248-72del
ENST00000645120.1:n.2521-73_2521-72del
ENST00000645338.1:n.1117-73_1117-72del
ENST00000645380.1:n.2411-73_2411-72del
ENST00000645561.1:n.2202-73_2202-72del
ENST00000645574.1:n.3890-73_3890-72del
ENST00000645589.1:c.1026-73_1026-72del	ENSP00000494588.1:n.1026-73_1026-72del
ENST00000646093.1:n.210-73_210-72del
ENST00000646107.1:c.909-73_909-72del	ENSP00000494518.1:n.909-73_909-72del
ENST00000646122.1:c.1026-73_1026-72del	ENSP00000496222.1:n.1026-73_1026-72del
ENST00000646196.1:n.1995-73_1995-72del
ENST00000646223.1:c.*1019-73_*1019-72del	ENSP00000496043.1:n.*1019-73_*1019-72del
ENST00000646319.1:c.1026-73_1026-72del	ENSP00000495377.1:n.1026-73_1026-72del
ENST00000646390.1:n.3314-73_3314-72del
ENST00000646627.1:c.468-73_468-72del	ENSP00000493795.1:n.468-73_468-72del
ENST00000646679.1:c.468-73_468-72del	ENSP00000494887.1:n.468-73_468-72del
ENST00000646822.1:n.2088-73_2088-72del
ENST00000646940.1:n.1200-73_1200-72del
ENST00000647286.1:n.1124-73_1124-72del
ENST00000399959.6:c.1026-73_1026-72del	ENSP00000382840.2:n.1026-73_1026-72del
ENST00000441189.3:c.341-2533_341-2532del	ENSP00000414281.2:n.341-2533_341-2532del
ENST00000457138.6:c.978-73_978-72del	ENSP00000392494.2:n.978-73_978-72del
ENST00000478993.5:c.1026-73_1026-72del	ENSP00000478443.1:n.1026-73_1026-72del
ENST00000542215.5:n.1074-73_1074-72del
ENST00000625837.2:c.1026-73_1026-72del	ENSP00000486306.1:n.1026-73_1026-72del
ENST00000626301.2:c.1026-73_1026-72del	ENSP00000486443.1:n.1026-73_1026-72del
ENST00000629496.2:c.1026-73_1026-72del	ENSP00000487224.1:n.1026-73_1026-72del
ENST00000629785.2:c.1026-73_1026-72del	ENSP00000486516.1:n.1026-73_1026-72del
ENST00000630255.2:c.1026-73_1026-72del	ENSP00000486720.1:n.1026-73_1026-72del
ENST00000630370.2:c.1026-73_1026-72del	ENSP00000487062.1:n.1026-73_1026-72del
ENST00000630858.2:c.1026-73_1026-72del	ENSP00000486514.1:n.1026-73_1026-72del
NM_001193416.2:c.1026-73_1026-72del	NP_001180345.1:n.1026-73_1026-72del
NM_001193417.2:c.978-73_978-72del	NP_001180346.1:n.978-73_978-72del
NM_001356.4:c.1026-73_1026-72del	NP_001347.3:n.1026-73_1026-72del
NR_126093.1:n.1971-73_1971-72del
XM_011543892.1:c.1026-73_1026-72del	XP_011542194.1:n.1026-73_1026-72del
NM_001363819.1:c.468-73_468-72del	NP_001350748.1:n.468-73_468-72del
XM_011543892.2:c.1026-73_1026-72del	XP_011542194.1:n.1026-73_1026-72del
XM_017029313.1:c.468-73_468-72del	XP_016884802.1:n.468-73_468-72del
NM_001193416.3:c.1026-73_1026-72del	NP_001180345.1:n.1026-73_1026-72del
NM_001193417.3:c.978-73_978-72del	NP_001180346.1:n.978-73_978-72del
NM_001356.5:c.1026-73_1026-72del MANE Select	NP_001347.3:n.1026-73_1026-72del