Canonical Allele Identifier: CA1697807537

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609618_30609619delinsCT , CM000669.2:g.30609618_30609619delinsCT	GRCh38
NC_000007.13:g.30649234_30649235delinsCT , CM000669.1:g.30649234_30649235delinsCT	GRCh37
NC_000007.12:g.30615759_30615760delinsCT	NCBI36
NG_007942.1:g.20054_20055delinsCT , LRG_243:g.20054_20055delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.769_770delinsCT MANE Select	ENSP00000373918.3:p.Leu257=
ENST00000444666.6:c.769_770delinsCT	ENSP00000415447.2:p.Leu257=
ENST00000470392.2:n.859_860delinsCT
ENST00000478124.6:n.832_833delinsCT
ENST00000485784.2:n.848_849delinsCT
ENST00000674616.1:c.*483_*484delinsCT	ENSP00000502408.1:n.*483_*484delinsCT
ENST00000674643.1:c.769_770delinsCT	ENSP00000501636.1:p.Leu257=
ENST00000674734.1:n.1265_1266delinsCT
ENST00000674737.1:c.*107_*108delinsCT	ENSP00000502464.1:n.*107_*108delinsCT
ENST00000674807.1:c.769_770delinsCT	ENSP00000502814.1:p.Leu257=
ENST00000674815.1:c.400_401delinsCT	ENSP00000502799.1:p.Leu134=
ENST00000674851.1:c.400_401delinsCT	ENSP00000502451.1:p.Leu134=
ENST00000674969.1:n.2642_2643delinsCT
ENST00000675051.1:c.568_569delinsCT	ENSP00000502296.1:p.Leu190=
ENST00000675529.1:c.*639_*640delinsCT	ENSP00000501655.1:n.*639_*640delinsCT
ENST00000675587.1:n.785_786delinsCT
ENST00000675651.1:c.769_770delinsCT	ENSP00000502513.1:p.Leu257=
ENST00000675693.1:c.601_602delinsCT	ENSP00000502174.1:p.Leu201=
ENST00000675810.1:c.667_668delinsCT	ENSP00000502743.1:p.Leu223=
ENST00000675859.1:c.769_770delinsCT	ENSP00000502033.1:p.Leu257=
ENST00000675863.1:n.777_778delinsCT
ENST00000675886.1:n.6809_6810delinsCT
ENST00000676088.1:c.*711_*712delinsCT	ENSP00000501884.1:n.*711_*712delinsCT
ENST00000676140.1:c.769_770delinsCT	ENSP00000502571.1:p.Leu257=
ENST00000676164.1:c.*220_*221delinsCT	ENSP00000501986.1:n.*220_*221delinsCT
ENST00000676210.1:c.*58_*59delinsCT	ENSP00000502373.1:n.*58_*59delinsCT
ENST00000676259.1:c.*201_*202delinsCT	ENSP00000501980.1:n.*201_*202delinsCT
ENST00000676403.1:c.769_770delinsCT	ENSP00000502681.1:p.Leu257=
ENST00000389266.7:c.769_770delinsCT	ENSP00000373918.3:p.Leu257=
ENST00000478124.5:n.807_808delinsCT
NM_001316772.1:c.607_608delinsCT	NP_001303701.1:p.Leu203=
NM_002047.2:c.769_770delinsCT , LRG_243t1:c.769_770delinsCT	NP_002038.2:p.Leu257=
NM_002047.3:c.769_770delinsCT	NP_002038.2:p.Leu257=
XM_006715686.1:c.400_401delinsCT	XP_006715749.1:p.Leu134=
XM_006715686.2:c.400_401delinsCT	XP_006715749.1:p.Leu134=
NM_002047.4:c.769_770delinsCT MANE Select	NP_002038.2:p.Leu257=