Canonical Allele Identifier: CA1697811519
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612535_30612549delinsGGATGGTAATATCTT , CM000669.2:g.30612535_30612549delinsGGATGGTAATATCTT GRCh38
NC_000007.13:g.30652151_30652165delinsGGATGGTAATATCTT , CM000669.1:g.30652151_30652165delinsGGATGGTAATATCTT GRCh37
NC_000007.12:g.30618676_30618690delinsGGATGGTAATATCTT NCBI36
NG_007942.1:g.22971_22985delinsGGATGGTAATATCTT , LRG_243:g.22971_22985delinsGGATGGTAATATCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1031+290_1031+304delinsGGATGGTAATATCTT MANE Select ENSP00000373918.3:n.1031+290_1031+304delinsGGATGGTAATATCTT
ENST00000444666.6:c.1031+290_1031+304delinsGGATGGTAATATCTT ENSP00000415447.2:n.1031+290_1031+304delinsGGATGGTAATATCTT
ENST00000470392.2:n.1121+290_1121+304delinsGGATGGTAATATCTT
ENST00000478124.6:n.1094+290_1094+304delinsGGATGGTAATATCTT
ENST00000485784.2:n.1110+290_1110+304delinsGGATGGTAATATCTT
ENST00000674616.1:c.*745+290_*745+304delinsGGATGGTAATATCTT ENSP00000502408.1:n.*745+290_*745+304delinsGGATGGTAATATCTT
ENST00000674643.1:c.1031+290_1031+304delinsGGATGGTAATATCTT ENSP00000501636.1:n.1031+290_1031+304delinsGGATGGTAATATCTT
ENST00000674734.1:n.1527+290_1527+304delinsGGATGGTAATATCTT
ENST00000674737.1:c.*369+290_*369+304delinsGGATGGTAATATCTT ENSP00000502464.1:n.*369+290_*369+304delinsGGATGGTAATATCTT
ENST00000674807.1:c.1031+290_1031+304delinsGGATGGTAATATCTT ENSP00000502814.1:n.1031+290_1031+304delinsGGATGGTAATATCTT
ENST00000674815.1:c.662+290_662+304delinsGGATGGTAATATCTT ENSP00000502799.1:n.662+290_662+304delinsGGATGGTAATATCTT
ENST00000674851.1:c.662+290_662+304delinsGGATGGTAATATCTT ENSP00000502451.1:n.662+290_662+304delinsGGATGGTAATATCTT
ENST00000674969.1:n.2904+290_2904+304delinsGGATGGTAATATCTT
ENST00000675051.1:c.830+290_830+304delinsGGATGGTAATATCTT ENSP00000502296.1:n.830+290_830+304delinsGGATGGTAATATCTT
ENST00000675529.1:c.*901+290_*901+304delinsGGATGGTAATATCTT ENSP00000501655.1:n.*901+290_*901+304delinsGGATGGTAATATCTT
ENST00000675587.1:n.1047+290_1047+304delinsGGATGGTAATATCTT
ENST00000675651.1:c.1031+290_1031+304delinsGGATGGTAATATCTT ENSP00000502513.1:n.1031+290_1031+304delinsGGATGGTAATATCTT
ENST00000675693.1:c.863+290_863+304delinsGGATGGTAATATCTT ENSP00000502174.1:n.863+290_863+304delinsGGATGGTAATATCTT
ENST00000675810.1:c.929+290_929+304delinsGGATGGTAATATCTT ENSP00000502743.1:n.929+290_929+304delinsGGATGGTAATATCTT
ENST00000675859.1:c.1031+290_1031+304delinsGGATGGTAATATCTT ENSP00000502033.1:n.1031+290_1031+304delinsGGATGGTAATATCTT
ENST00000675863.1:n.1039+290_1039+304delinsGGATGGTAATATCTT
ENST00000675886.1:n.7071+290_7071+304delinsGGATGGTAATATCTT
ENST00000676088.1:c.*973+290_*973+304delinsGGATGGTAATATCTT ENSP00000501884.1:n.*973+290_*973+304delinsGGATGGTAATATCTT
ENST00000676140.1:c.1031+290_1031+304delinsGGATGGTAATATCTT ENSP00000502571.1:n.1031+290_1031+304delinsGGATGGTAATATCTT
ENST00000676164.1:c.*482+290_*482+304delinsGGATGGTAATATCTT ENSP00000501986.1:n.*482+290_*482+304delinsGGATGGTAATATCTT
ENST00000676210.1:c.*320+290_*320+304delinsGGATGGTAATATCTT ENSP00000502373.1:n.*320+290_*320+304delinsGGATGGTAATATCTT
ENST00000676259.1:c.*463+290_*463+304delinsGGATGGTAATATCTT ENSP00000501980.1:n.*463+290_*463+304delinsGGATGGTAATATCTT
ENST00000676403.1:c.1031+290_1031+304delinsGGATGGTAATATCTT ENSP00000502681.1:n.1031+290_1031+304delinsGGATGGTAATATCTT
ENST00000389266.7:c.1031+290_1031+304delinsGGATGGTAATATCTT ENSP00000373918.3:n.1031+290_1031+304delinsGGATGGTAATATCTT
ENST00000478124.5:n.1069+290_1069+304delinsGGATGGTAATATCTT
NM_001316772.1:c.869+290_869+304delinsGGATGGTAATATCTT NP_001303701.1:n.869+290_869+304delinsGGATGGTAATATCTT
NM_002047.2:c.1031+290_1031+304delinsGGATGGTAATATCTT , LRG_243t1:c.1031+290_1031+304delinsGGATGGTAATATCTT NP_002038.2:n.1031+290_1031+304delinsGGATGGTAATATCTT
NM_002047.3:c.1031+290_1031+304delinsGGATGGTAATATCTT NP_002038.2:n.1031+290_1031+304delinsGGATGGTAATATCTT
XM_006715686.1:c.662+290_662+304delinsGGATGGTAATATCTT XP_006715749.1:n.662+290_662+304delinsGGATGGTAATATCTT
XM_006715686.2:c.662+290_662+304delinsGGATGGTAATATCTT XP_006715749.1:n.662+290_662+304delinsGGATGGTAATATCTT
NM_002047.4:c.1031+290_1031+304delinsGGATGGTAATATCTT MANE Select NP_002038.2:n.1031+290_1031+304delinsGGATGGTAATATCTT