Canonical Allele Identifier: CA2739273412

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2806647
• ClinVar RCV Id: RCV003679892

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41346229_41346230dup , CM000685.2:g.41346229_41346230dup	GRCh38
NC_000023.10:g.41205482_41205483dup , CM000685.1:g.41205482_41205483dup	GRCh37
NC_000023.9:g.41090426_41090427dup	NCBI36
NG_012830.1:g.17832_17833dup
NG_012830.2:g.17832_17833dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1448_1449dup	ENSP00000496052.2:p.Lys484AlafsTer5
ENST00000399959.7:c.1313_1314dup	ENSP00000382840.3:p.Lys439AlafsTer5
ENST00000441189.4:c.1217_1218dup	ENSP00000414281.3:p.Lys407AlafsTer5
ENST00000457138.7:c.1268_1269dup	ENSP00000392494.2:p.Lys424AlafsTer5
ENST00000616050.3:c.64_65dup
ENST00000629496.3:c.1316_1317dup	ENSP00000487224.1:p.Lys440AlafsTer5
ENST00000642161.1:n.3515_3516dup
ENST00000642322.1:c.758_759dup	ENSP00000496052.1:p.Lys254AlafsTer5
ENST00000642424.1:c.758_759dup	ENSP00000496356.1:p.Lys254AlafsTer5
ENST00000642589.1:n.4638_4639dup
ENST00000642597.1:n.1490_1491dup
ENST00000642687.1:n.1349_1350dup
ENST00000642722.1:n.2149_2150dup
ENST00000642763.1:n.2207_2208dup
ENST00000642793.1:c.*765_*766dup	ENSP00000493976.1:n.*765_*766dup
ENST00000642801.1:n.965_966dup
ENST00000643820.1:n.592_593dup
ENST00000643963.1:c.*598_*599dup	ENSP00000495264.1:n.*598_*599dup
ENST00000644073.1:c.1274_1275dup	ENSP00000493475.1:p.Lys426AlafsTer5
ENST00000644074.1:c.1313_1314dup	ENSP00000496663.1:p.Lys439AlafsTer5
ENST00000644109.1:c.1478_1479dup	ENSP00000494952.1:p.Lys494AlafsTer5
ENST00000644307.1:n.1486_1487dup
ENST00000644513.1:c.1316_1317dup	ENSP00000493819.1:p.Lys440AlafsTer5
ENST00000644677.1:c.1199_1200dup	ENSP00000496524.1:p.Lys401AlafsTer5
ENST00000644876.2:c.1316_1317dup MANE Select	ENSP00000494040.1:p.Lys440AlafsTer5
ENST00000644958.1:n.2977_2978dup
ENST00000645080.1:c.*2538_*2539dup	ENSP00000494767.1:n.*2538_*2539dup
ENST00000645120.1:n.2811_2812dup
ENST00000645338.1:n.1486_1487dup
ENST00000645380.1:n.2780_2781dup
ENST00000645561.1:n.2492_2493dup
ENST00000645574.1:n.4180_4181dup
ENST00000645589.1:c.1316_1317dup	ENSP00000494588.1:p.Lys440AlafsTer5
ENST00000646093.1:n.500_501dup
ENST00000646107.1:c.1199_1200dup	ENSP00000494518.1:p.Lys401AlafsTer5
ENST00000646122.1:c.1316_1317dup	ENSP00000496222.1:p.Lys440AlafsTer5
ENST00000646196.1:n.2285_2286dup
ENST00000646223.1:c.*1309_*1310dup	ENSP00000496043.1:n.*1309_*1310dup
ENST00000646319.1:c.1316_1317dup	ENSP00000495377.1:p.Lys440AlafsTer5
ENST00000646390.1:n.3604_3605dup
ENST00000646627.1:c.758_759dup	ENSP00000493795.1:p.Lys254AlafsTer5
ENST00000646679.1:c.758_759dup	ENSP00000494887.1:p.Lys254AlafsTer5
ENST00000646822.1:n.2378_2379dup
ENST00000646940.1:n.1490_1491dup
ENST00000647286.1:n.1414_1415dup
ENST00000647477.1:n.55_56dup
ENST00000399959.6:c.1316_1317dup	ENSP00000382840.2:p.Lys440AlafsTer5
ENST00000441189.3:c.341-1411_341-1410dup	ENSP00000414281.2:n.341-1411_341-1410dup
ENST00000457138.6:c.1268_1269dup	ENSP00000392494.2:p.Lys424AlafsTer5
ENST00000478993.5:c.1316_1317dup	ENSP00000478443.1:p.Lys440AlafsTer5
ENST00000542215.5:n.1364_1365dup
ENST00000625837.2:c.1316_1317dup	ENSP00000486306.1:p.Lys440AlafsTer5
ENST00000626301.2:c.1316_1317dup	ENSP00000486443.1:p.Lys440AlafsTer5
ENST00000629496.2:c.1316_1317dup	ENSP00000487224.1:p.Lys440AlafsTer5
ENST00000629785.2:c.1316_1317dup	ENSP00000486516.1:p.Lys440AlafsTer5
ENST00000630255.2:c.1316_1317dup	ENSP00000486720.1:p.Lys440AlafsTer5
ENST00000630370.2:c.1316_1317dup	ENSP00000487062.1:p.Lys440AlafsTer5
ENST00000630858.2:c.1316_1317dup	ENSP00000486514.1:p.Lys440AlafsTer5
NM_001193416.2:c.1316_1317dup	NP_001180345.1:p.Lys440AlafsTer5
NM_001193417.2:c.1268_1269dup	NP_001180346.1:p.Lys424AlafsTer5
NM_001356.4:c.1316_1317dup	NP_001347.3:p.Lys440AlafsTer5
NR_126093.1:n.2261_2262dup
XM_011543892.1:c.1316_1317dup	XP_011542194.1:p.Lys440AlafsTer5
NM_001363819.1:c.758_759dup	NP_001350748.1:p.Lys254AlafsTer5
XM_011543892.2:c.1316_1317dup	XP_011542194.1:p.Lys440AlafsTer5
XM_017029313.1:c.758_759dup	XP_016884802.1:p.Lys254AlafsTer5
NM_001193416.3:c.1316_1317dup	NP_001180345.1:p.Lys440AlafsTer5
NM_001193417.3:c.1268_1269dup	NP_001180346.1:p.Lys424AlafsTer5
NM_001356.5:c.1316_1317dup MANE Select	NP_001347.3:p.Lys440AlafsTer5