Canonical Allele Identifier: CA1697811430
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30612445_30612446delinsAC , CM000669.2:g.30612445_30612446delinsAC GRCh38
NC_000007.13:g.30652061_30652062delinsAC , CM000669.1:g.30652061_30652062delinsAC GRCh37
NC_000007.12:g.30618586_30618587delinsAC NCBI36
NG_007942.1:g.22881_22882delinsAC , LRG_243:g.22881_22882delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1031+200_1031+201delinsAC MANE Select ENSP00000373918.3:n.1031+200_1031+201delinsAC
ENST00000444666.6:c.1031+200_1031+201delinsAC ENSP00000415447.2:n.1031+200_1031+201delinsAC
ENST00000470392.2:n.1121+200_1121+201delinsAC
ENST00000478124.6:n.1094+200_1094+201delinsAC
ENST00000485784.2:n.1110+200_1110+201delinsAC
ENST00000674616.1:c.*745+200_*745+201delinsAC ENSP00000502408.1:n.*745+200_*745+201delinsAC
ENST00000674643.1:c.1031+200_1031+201delinsAC ENSP00000501636.1:n.1031+200_1031+201delinsAC
ENST00000674734.1:n.1527+200_1527+201delinsAC
ENST00000674737.1:c.*369+200_*369+201delinsAC ENSP00000502464.1:n.*369+200_*369+201delinsAC
ENST00000674807.1:c.1031+200_1031+201delinsAC ENSP00000502814.1:n.1031+200_1031+201delinsAC
ENST00000674815.1:c.662+200_662+201delinsAC ENSP00000502799.1:n.662+200_662+201delinsAC
ENST00000674851.1:c.662+200_662+201delinsAC ENSP00000502451.1:n.662+200_662+201delinsAC
ENST00000674969.1:n.2904+200_2904+201delinsAC
ENST00000675051.1:c.830+200_830+201delinsAC ENSP00000502296.1:n.830+200_830+201delinsAC
ENST00000675529.1:c.*901+200_*901+201delinsAC ENSP00000501655.1:n.*901+200_*901+201delinsAC
ENST00000675587.1:n.1047+200_1047+201delinsAC
ENST00000675651.1:c.1031+200_1031+201delinsAC ENSP00000502513.1:n.1031+200_1031+201delinsAC
ENST00000675693.1:c.863+200_863+201delinsAC ENSP00000502174.1:n.863+200_863+201delinsAC
ENST00000675810.1:c.929+200_929+201delinsAC ENSP00000502743.1:n.929+200_929+201delinsAC
ENST00000675859.1:c.1031+200_1031+201delinsAC ENSP00000502033.1:n.1031+200_1031+201delinsAC
ENST00000675863.1:n.1039+200_1039+201delinsAC
ENST00000675886.1:n.7071+200_7071+201delinsAC
ENST00000676088.1:c.*973+200_*973+201delinsAC ENSP00000501884.1:n.*973+200_*973+201delinsAC
ENST00000676140.1:c.1031+200_1031+201delinsAC ENSP00000502571.1:n.1031+200_1031+201delinsAC
ENST00000676164.1:c.*482+200_*482+201delinsAC ENSP00000501986.1:n.*482+200_*482+201delinsAC
ENST00000676210.1:c.*320+200_*320+201delinsAC ENSP00000502373.1:n.*320+200_*320+201delinsAC
ENST00000676259.1:c.*463+200_*463+201delinsAC ENSP00000501980.1:n.*463+200_*463+201delinsAC
ENST00000676403.1:c.1031+200_1031+201delinsAC ENSP00000502681.1:n.1031+200_1031+201delinsAC
ENST00000389266.7:c.1031+200_1031+201delinsAC ENSP00000373918.3:n.1031+200_1031+201delinsAC
ENST00000478124.5:n.1069+200_1069+201delinsAC
NM_001316772.1:c.869+200_869+201delinsAC NP_001303701.1:n.869+200_869+201delinsAC
NM_002047.2:c.1031+200_1031+201delinsAC , LRG_243t1:c.1031+200_1031+201delinsAC NP_002038.2:n.1031+200_1031+201delinsAC
NM_002047.3:c.1031+200_1031+201delinsAC NP_002038.2:n.1031+200_1031+201delinsAC
XM_006715686.1:c.662+200_662+201delinsAC XP_006715749.1:n.662+200_662+201delinsAC
XM_006715686.2:c.662+200_662+201delinsAC XP_006715749.1:n.662+200_662+201delinsAC
NM_002047.4:c.1031+200_1031+201delinsAC MANE Select NP_002038.2:n.1031+200_1031+201delinsAC