Canonical Allele Identifier: CA916083931

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 840183
• ClinVar RCV Id: RCV001042118 ; RCV001267579
• dbSNP Id: rs2063908023

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345225_41345348del , CM000685.2:g.41345225_41345348del	GRCh38
NC_000023.10:g.41204478_41204601del , CM000685.1:g.41204478_41204601del	GRCh37
NC_000023.9:g.41089422_41089545del	NCBI36
NG_012830.1:g.16828_16951del
NG_012830.2:g.16828_16951del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1203_1302+24del
ENST00000399959.7:c.1068_1167+24del
ENST00000441189.4:c.972_1071+24del
ENST00000457138.7:c.1023_1122+24del
ENST00000629496.3:c.1071_1170+24del
ENST00000642161.1:n.3270_3369+24del
ENST00000642322.1:c.513_612+24del
ENST00000642424.1:c.513_612+24del
ENST00000642589.1:n.4393_4492+24del
ENST00000642597.1:n.1245_1344+24del
ENST00000642687.1:n.1104_1203+24del
ENST00000642722.1:n.1904_2003+24del
ENST00000642763.1:n.1962_2061+24del
ENST00000642793.1:c.*520_*619+24del
ENST00000642801.1:n.720_819+24del
ENST00000643820.1:n.347_446+24del
ENST00000643963.1:c.*353_*452+24del
ENST00000644073.1:c.1029_1128+24del
ENST00000644074.1:c.1068_1167+24del
ENST00000644109.1:c.1233_1332+24del
ENST00000644307.1:n.1162_1285del
ENST00000644513.1:c.1071_1170+24del
ENST00000644677.1:c.954_1053+24del
ENST00000644876.2:c.1071_1170+24del
ENST00000644958.1:n.2732_2831+24del
ENST00000645080.1:c.*2293_*2392+24del
ENST00000645120.1:n.2566_2665+24del
ENST00000645338.1:n.1162_1285del
ENST00000645380.1:n.2456_2579del
ENST00000645561.1:n.2247_2346+24del
ENST00000645574.1:n.3935_4034+24del
ENST00000645589.1:c.1071_1170+24del
ENST00000646093.1:n.255_354+24del
ENST00000646107.1:c.954_1053+24del
ENST00000646122.1:c.1071_1170+24del
ENST00000646196.1:n.2040_2139+24del
ENST00000646223.1:c.*1064_*1163+24del
ENST00000646319.1:c.1071_1170+24del
ENST00000646390.1:n.3359_3458+24del
ENST00000646627.1:c.513_612+24del
ENST00000646679.1:c.513_612+24del
ENST00000646822.1:n.2133_2232+24del
ENST00000646940.1:n.1245_1344+24del
ENST00000647286.1:n.1169_1268+24del
ENST00000399959.6:c.1071_1170+24del
ENST00000441189.3:c.341-2415_341-2292del	ENSP00000414281.2:n.341-2415_341-2292del
ENST00000457138.6:c.1023_1122+24del
ENST00000478993.5:c.1071_1170+24del
ENST00000542215.5:n.1119_1218+24del
ENST00000625837.2:c.1071_1170+24del
ENST00000626301.2:c.1071_1170+24del
ENST00000629496.2:c.1071_1170+24del
ENST00000629785.2:c.1071_1170+24del
ENST00000630255.2:c.1071_1170+24del
ENST00000630370.2:c.1071_1170+24del
ENST00000630858.2:c.1071_1170+24del
NM_001193416.2:c.1071_1170+24del
NM_001193417.2:c.1023_1122+24del
NM_001356.4:c.1071_1170+24del
NR_126093.1:n.2016_2115+24del
XM_011543892.1:c.1071_1170+24del
NM_001363819.1:c.513_612+24del
XM_011543892.2:c.1071_1170+24del
XM_017029313.1:c.513_612+24del
NM_001193416.3:c.1071_1170+24del
NM_001193417.3:c.1023_1122+24del
NM_001356.5:c.1071_1170+24del