Canonical Allele Identifier: CA1697807425

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609593_30609596delinsCTAT , CM000669.2:g.30609593_30609596delinsCTAT	GRCh38
NC_000007.13:g.30649209_30649212delinsCTAT , CM000669.1:g.30649209_30649212delinsCTAT	GRCh37
NC_000007.12:g.30615734_30615737delinsCTAT	NCBI36
NG_007942.1:g.20029_20032delinsCTAT , LRG_243:g.20029_20032delinsCTAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.744_747delinsCTAT MANE Select	ENSP00000373918.3:p.Asn248=
ENST00000444666.6:c.744_747delinsCTAT	ENSP00000415447.2:p.Asn248=
ENST00000470392.2:n.834_837delinsCTAT
ENST00000478124.6:n.807_810delinsCTAT
ENST00000485784.2:n.823_826delinsCTAT
ENST00000674616.1:c.*458_*461delinsCTAT	ENSP00000502408.1:n.*458_*461delinsCTAT
ENST00000674643.1:c.744_747delinsCTAT	ENSP00000501636.1:p.Asn248=
ENST00000674734.1:n.1240_1243delinsCTAT
ENST00000674737.1:c.*82_*85delinsCTAT	ENSP00000502464.1:n.*82_*85delinsCTAT
ENST00000674807.1:c.744_747delinsCTAT	ENSP00000502814.1:p.Asn248=
ENST00000674815.1:c.375_378delinsCTAT	ENSP00000502799.1:p.Asn125=
ENST00000674851.1:c.375_378delinsCTAT	ENSP00000502451.1:p.Asn125=
ENST00000674969.1:n.2617_2620delinsCTAT
ENST00000675051.1:c.543_546delinsCTAT	ENSP00000502296.1:p.Asn181=
ENST00000675529.1:c.*614_*617delinsCTAT	ENSP00000501655.1:n.*614_*617delinsCTAT
ENST00000675587.1:n.760_763delinsCTAT
ENST00000675651.1:c.744_747delinsCTAT	ENSP00000502513.1:p.Asn248=
ENST00000675693.1:c.576_579delinsCTAT	ENSP00000502174.1:p.Asn192=
ENST00000675810.1:c.642_645delinsCTAT	ENSP00000502743.1:p.Asn214=
ENST00000675859.1:c.744_747delinsCTAT	ENSP00000502033.1:p.Asn248=
ENST00000675863.1:n.752_755delinsCTAT
ENST00000675886.1:n.6784_6787delinsCTAT
ENST00000676088.1:c.*686_*689delinsCTAT	ENSP00000501884.1:n.*686_*689delinsCTAT
ENST00000676140.1:c.744_747delinsCTAT	ENSP00000502571.1:p.Asn248=
ENST00000676164.1:c.*195_*198delinsCTAT	ENSP00000501986.1:n.*195_*198delinsCTAT
ENST00000676210.1:c.*33_*36delinsCTAT	ENSP00000502373.1:n.*33_*36delinsCTAT
ENST00000676259.1:c.*176_*179delinsCTAT	ENSP00000501980.1:n.*176_*179delinsCTAT
ENST00000676403.1:c.744_747delinsCTAT	ENSP00000502681.1:p.Asn248=
ENST00000389266.7:c.744_747delinsCTAT	ENSP00000373918.3:p.Asn248=
ENST00000478124.5:n.782_785delinsCTAT
NM_001316772.1:c.582_585delinsCTAT	NP_001303701.1:p.Asn194=
NM_002047.2:c.744_747delinsCTAT , LRG_243t1:c.744_747delinsCTAT	NP_002038.2:p.Asn248=
NM_002047.3:c.744_747delinsCTAT	NP_002038.2:p.Asn248=
XM_006715686.1:c.375_378delinsCTAT	XP_006715749.1:p.Asn125=
XM_006715686.2:c.375_378delinsCTAT	XP_006715749.1:p.Asn125=
NM_002047.4:c.744_747delinsCTAT MANE Select	NP_002038.2:p.Asn248=