Canonical Allele Identifier: CA2693487981

Gene: DDX3X

Linked Data

• gnomAD v4: X-41345343-AATTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345348_41345352del , CM000685.2:g.41345348_41345352del	GRCh38
NC_000023.10:g.41204601_41204605del , CM000685.1:g.41204601_41204605del	GRCh37
NC_000023.9:g.41089545_41089549del	NCBI36
NG_012830.1:g.16951_16955del
NG_012830.2:g.16951_16955del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1302+24_1302+28del	ENSP00000496052.2:n.1302+24_1302+28del
ENST00000399959.7:c.1167+24_1167+28del	ENSP00000382840.3:n.1167+24_1167+28del
ENST00000441189.4:c.1071+24_1071+28del	ENSP00000414281.3:n.1071+24_1071+28del
ENST00000457138.7:c.1122+24_1122+28del	ENSP00000392494.2:n.1122+24_1122+28del
ENST00000629496.3:c.1170+24_1170+28del	ENSP00000487224.1:n.1170+24_1170+28del
ENST00000642161.1:n.3369+24_3369+28del
ENST00000642322.1:c.612+24_612+28del	ENSP00000496052.1:n.612+24_612+28del
ENST00000642424.1:c.612+24_612+28del	ENSP00000496356.1:n.612+24_612+28del
ENST00000642589.1:n.4492+24_4492+28del
ENST00000642597.1:n.1344+24_1344+28del
ENST00000642687.1:n.1203+24_1203+28del
ENST00000642722.1:n.2003+24_2003+28del
ENST00000642763.1:n.2061+24_2061+28del
ENST00000642793.1:c.*619+24_*619+28del	ENSP00000493976.1:n.*619+24_*619+28del
ENST00000642801.1:n.819+24_819+28del
ENST00000643820.1:n.446+24_446+28del
ENST00000643963.1:c.*452+24_*452+28del	ENSP00000495264.1:n.*452+24_*452+28del
ENST00000644073.1:c.1128+24_1128+28del	ENSP00000493475.1:n.1128+24_1128+28del
ENST00000644074.1:c.1167+24_1167+28del	ENSP00000496663.1:n.1167+24_1167+28del
ENST00000644109.1:c.1332+24_1332+28del	ENSP00000494952.1:n.1332+24_1332+28del
ENST00000644307.1:n.1285_1289del
ENST00000644513.1:c.1170+24_1170+28del	ENSP00000493819.1:n.1170+24_1170+28del
ENST00000644677.1:c.1053+24_1053+28del	ENSP00000496524.1:n.1053+24_1053+28del
ENST00000644876.2:c.1170+24_1170+28del MANE Select	ENSP00000494040.1:n.1170+24_1170+28del
ENST00000644958.1:n.2831+24_2831+28del
ENST00000645080.1:c.*2392+24_*2392+28del	ENSP00000494767.1:n.*2392+24_*2392+28del
ENST00000645120.1:n.2665+24_2665+28del
ENST00000645338.1:n.1285_1289del
ENST00000645380.1:n.2579_2583del
ENST00000645561.1:n.2346+24_2346+28del
ENST00000645574.1:n.4034+24_4034+28del
ENST00000645589.1:c.1170+24_1170+28del	ENSP00000494588.1:n.1170+24_1170+28del
ENST00000646093.1:n.354+24_354+28del
ENST00000646107.1:c.1053+24_1053+28del	ENSP00000494518.1:n.1053+24_1053+28del
ENST00000646122.1:c.1170+24_1170+28del	ENSP00000496222.1:n.1170+24_1170+28del
ENST00000646196.1:n.2139+24_2139+28del
ENST00000646223.1:c.*1163+24_*1163+28del	ENSP00000496043.1:n.*1163+24_*1163+28del
ENST00000646319.1:c.1170+24_1170+28del	ENSP00000495377.1:n.1170+24_1170+28del
ENST00000646390.1:n.3458+24_3458+28del
ENST00000646627.1:c.612+24_612+28del	ENSP00000493795.1:n.612+24_612+28del
ENST00000646679.1:c.612+24_612+28del	ENSP00000494887.1:n.612+24_612+28del
ENST00000646822.1:n.2232+24_2232+28del
ENST00000646940.1:n.1344+24_1344+28del
ENST00000647286.1:n.1268+24_1268+28del
ENST00000399959.6:c.1170+24_1170+28del	ENSP00000382840.2:n.1170+24_1170+28del
ENST00000441189.3:c.341-2292_341-2288del	ENSP00000414281.2:n.341-2292_341-2288del
ENST00000457138.6:c.1122+24_1122+28del	ENSP00000392494.2:n.1122+24_1122+28del
ENST00000478993.5:c.1170+24_1170+28del	ENSP00000478443.1:n.1170+24_1170+28del
ENST00000542215.5:n.1218+24_1218+28del
ENST00000625837.2:c.1170+24_1170+28del	ENSP00000486306.1:n.1170+24_1170+28del
ENST00000626301.2:c.1170+24_1170+28del	ENSP00000486443.1:n.1170+24_1170+28del
ENST00000629496.2:c.1170+24_1170+28del	ENSP00000487224.1:n.1170+24_1170+28del
ENST00000629785.2:c.1170+24_1170+28del	ENSP00000486516.1:n.1170+24_1170+28del
ENST00000630255.2:c.1170+24_1170+28del	ENSP00000486720.1:n.1170+24_1170+28del
ENST00000630370.2:c.1170+24_1170+28del	ENSP00000487062.1:n.1170+24_1170+28del
ENST00000630858.2:c.1170+24_1170+28del	ENSP00000486514.1:n.1170+24_1170+28del
NM_001193416.2:c.1170+24_1170+28del	NP_001180345.1:n.1170+24_1170+28del
NM_001193417.2:c.1122+24_1122+28del	NP_001180346.1:n.1122+24_1122+28del
NM_001356.4:c.1170+24_1170+28del	NP_001347.3:n.1170+24_1170+28del
NR_126093.1:n.2115+24_2115+28del
XM_011543892.1:c.1170+24_1170+28del	XP_011542194.1:n.1170+24_1170+28del
NM_001363819.1:c.612+24_612+28del	NP_001350748.1:n.612+24_612+28del
XM_011543892.2:c.1170+24_1170+28del	XP_011542194.1:n.1170+24_1170+28del
XM_017029313.1:c.612+24_612+28del	XP_016884802.1:n.612+24_612+28del
NM_001193416.3:c.1170+24_1170+28del	NP_001180345.1:n.1170+24_1170+28del
NM_001193417.3:c.1122+24_1122+28del	NP_001180346.1:n.1122+24_1122+28del
NM_001356.5:c.1170+24_1170+28del MANE Select	NP_001347.3:n.1170+24_1170+28del