Canonical Allele Identifier: CA2552725304

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621449_30621452dup , CM000669.2:g.30621449_30621452dup	GRCh38
NC_000007.13:g.30661065_30661068dup , CM000669.1:g.30661065_30661068dup	GRCh37
NC_000007.12:g.30627590_30627593dup	NCBI36
NG_007942.1:g.31885_31888dup , LRG_243:g.31885_31888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1416_1419dup MANE Select	ENSP00000373918.3:p.Arg474CysfsTer11
ENST00000444666.6:c.1416_1419dup	ENSP00000415447.2:p.Arg474CysfsTer11
ENST00000470392.2:n.1506_1509dup
ENST00000478124.6:n.1479_1482dup
ENST00000485784.2:n.1495_1498dup
ENST00000674616.1:c.*1130_*1133dup	ENSP00000502408.1:n.*1130_*1133dup
ENST00000674643.1:c.*516_*519dup	ENSP00000501636.1:n.*516_*519dup
ENST00000674734.1:n.1912_1915dup
ENST00000674737.1:c.*754_*757dup	ENSP00000502464.1:n.*754_*757dup
ENST00000674807.1:c.1416_1419dup	ENSP00000502814.1:p.Arg474CysfsTer11
ENST00000674815.1:c.1047_1050dup	ENSP00000502799.1:p.Arg351CysfsTer11
ENST00000674851.1:c.1047_1050dup	ENSP00000502451.1:p.Arg351CysfsTer11
ENST00000674969.1:n.3289_3292dup
ENST00000675051.1:c.1215_1218dup	ENSP00000502296.1:p.Arg407CysfsTer11
ENST00000675529.1:c.*1286_*1289dup	ENSP00000501655.1:n.*1286_*1289dup
ENST00000675587.1:n.1432_1435dup
ENST00000675651.1:c.1416_1419dup	ENSP00000502513.1:p.Arg474CysfsTer11
ENST00000675693.1:c.1248_1251dup	ENSP00000502174.1:p.Arg418CysfsTer11
ENST00000675810.1:c.1314_1317dup	ENSP00000502743.1:p.Arg440CysfsTer11
ENST00000675859.1:c.1416_1419dup	ENSP00000502033.1:p.Arg474CysfsTer11
ENST00000675863.1:n.1424_1427dup
ENST00000675886.1:n.7456_7459dup
ENST00000676088.1:c.*1358_*1361dup	ENSP00000501884.1:n.*1358_*1361dup
ENST00000676140.1:c.*361_*364dup	ENSP00000502571.1:n.*361_*364dup
ENST00000676164.1:c.*867_*870dup	ENSP00000501986.1:n.*867_*870dup
ENST00000676210.1:c.*705_*708dup	ENSP00000502373.1:n.*705_*708dup
ENST00000676259.1:c.*848_*851dup	ENSP00000501980.1:n.*848_*851dup
ENST00000676403.1:c.1416_1419dup	ENSP00000502681.1:p.Arg474CysfsTer11
ENST00000389266.7:c.1416_1419dup	ENSP00000373918.3:p.Arg474CysfsTer11
ENST00000478124.5:n.1454_1457dup
ENST00000484093.1:n.415_418dup
NM_001316772.1:c.1254_1257dup	NP_001303701.1:p.Arg420CysfsTer11
NM_002047.2:c.1416_1419dup , LRG_243t1:c.1416_1419dup	NP_002038.2:p.Arg474CysfsTer11
NM_002047.3:c.1416_1419dup	NP_002038.2:p.Arg474CysfsTer11
XM_006715686.1:c.1047_1050dup	XP_006715749.1:p.Arg351CysfsTer11
XM_006715686.2:c.1047_1050dup	XP_006715749.1:p.Arg351CysfsTer11
NM_002047.4:c.1416_1419dup MANE Select	NP_002038.2:p.Arg474CysfsTer11