Canonical Allele Identifier: CA1697807651
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30609666_30609667delinsTC , CM000669.2:g.30609666_30609667delinsTC GRCh38
NC_000007.13:g.30649282_30649283delinsTC , CM000669.1:g.30649282_30649283delinsTC GRCh37
NC_000007.12:g.30615807_30615808delinsTC NCBI36
NG_007942.1:g.20102_20103delinsTC , LRG_243:g.20102_20103delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.817_818delinsTC MANE Select ENSP00000373918.3:p.Ser273=
ENST00000444666.6:c.817_818delinsTC ENSP00000415447.2:p.Ser273=
ENST00000470392.2:n.907_908delinsTC
ENST00000478124.6:n.880_881delinsTC
ENST00000485784.2:n.896_897delinsTC
ENST00000674616.1:c.*531_*532delinsTC ENSP00000502408.1:n.*531_*532delinsTC
ENST00000674643.1:c.817_818delinsTC ENSP00000501636.1:p.Ser273=
ENST00000674734.1:n.1313_1314delinsTC
ENST00000674737.1:c.*155_*156delinsTC ENSP00000502464.1:n.*155_*156delinsTC
ENST00000674807.1:c.817_818delinsTC ENSP00000502814.1:p.Ser273=
ENST00000674815.1:c.448_449delinsTC ENSP00000502799.1:p.Ser150=
ENST00000674851.1:c.448_449delinsTC ENSP00000502451.1:p.Ser150=
ENST00000674969.1:n.2690_2691delinsTC
ENST00000675051.1:c.616_617delinsTC ENSP00000502296.1:p.Ser206=
ENST00000675529.1:c.*687_*688delinsTC ENSP00000501655.1:n.*687_*688delinsTC
ENST00000675587.1:n.833_834delinsTC
ENST00000675651.1:c.817_818delinsTC ENSP00000502513.1:p.Ser273=
ENST00000675693.1:c.649_650delinsTC ENSP00000502174.1:p.Ser217=
ENST00000675810.1:c.715_716delinsTC ENSP00000502743.1:p.Ser239=
ENST00000675859.1:c.817_818delinsTC ENSP00000502033.1:p.Ser273=
ENST00000675863.1:n.825_826delinsTC
ENST00000675886.1:n.6857_6858delinsTC
ENST00000676088.1:c.*759_*760delinsTC ENSP00000501884.1:n.*759_*760delinsTC
ENST00000676140.1:c.817_818delinsTC ENSP00000502571.1:p.Ser273=
ENST00000676164.1:c.*268_*269delinsTC ENSP00000501986.1:n.*268_*269delinsTC
ENST00000676210.1:c.*106_*107delinsTC ENSP00000502373.1:n.*106_*107delinsTC
ENST00000676259.1:c.*249_*250delinsTC ENSP00000501980.1:n.*249_*250delinsTC
ENST00000676403.1:c.817_818delinsTC ENSP00000502681.1:p.Ser273=
ENST00000389266.7:c.817_818delinsTC ENSP00000373918.3:p.Ser273=
ENST00000478124.5:n.855_856delinsTC
NM_001316772.1:c.655_656delinsTC NP_001303701.1:p.Ser219=
NM_002047.2:c.817_818delinsTC , LRG_243t1:c.817_818delinsTC NP_002038.2:p.Ser273=
NM_002047.3:c.817_818delinsTC NP_002038.2:p.Ser273=
XM_006715686.1:c.448_449delinsTC XP_006715749.1:p.Ser150=
XM_006715686.2:c.448_449delinsTC XP_006715749.1:p.Ser150=
NM_002047.4:c.817_818delinsTC MANE Select NP_002038.2:p.Ser273=