Canonical Allele Identifier: CA1697807587

Gene: GARS1

Linked Data

• ClinVar Variation Id: 1041188
• ClinVar RCV Id: RCV001344952
• dbSNP Id: rs1791556326

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609639_30609641del , CM000669.2:g.30609639_30609641del	GRCh38
NC_000007.13:g.30649255_30649257del , CM000669.1:g.30649255_30649257del	GRCh37
NC_000007.12:g.30615780_30615782del	NCBI36
NG_007942.1:g.20075_20077del , LRG_243:g.20075_20077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.790_792del MANE Select	ENSP00000373918.3:p.Lys264del
ENST00000444666.6:c.790_792del	ENSP00000415447.2:p.Lys264del
ENST00000470392.2:n.880_882del
ENST00000478124.6:n.853_855del
ENST00000485784.2:n.869_871del
ENST00000674616.1:c.*504_*506del	ENSP00000502408.1:n.*504_*506del
ENST00000674643.1:c.790_792del	ENSP00000501636.1:p.Lys264del
ENST00000674734.1:n.1286_1288del
ENST00000674737.1:c.*128_*130del	ENSP00000502464.1:n.*128_*130del
ENST00000674807.1:c.790_792del	ENSP00000502814.1:p.Lys264del
ENST00000674815.1:c.421_423del	ENSP00000502799.1:p.Lys141del
ENST00000674851.1:c.421_423del	ENSP00000502451.1:p.Lys141del
ENST00000674969.1:n.2663_2665del
ENST00000675051.1:c.589_591del	ENSP00000502296.1:p.Lys197del
ENST00000675529.1:c.*660_*662del	ENSP00000501655.1:n.*660_*662del
ENST00000675587.1:n.806_808del
ENST00000675651.1:c.790_792del	ENSP00000502513.1:p.Lys264del
ENST00000675693.1:c.622_624del	ENSP00000502174.1:p.Lys208del
ENST00000675810.1:c.688_690del	ENSP00000502743.1:p.Lys230del
ENST00000675859.1:c.790_792del	ENSP00000502033.1:p.Lys264del
ENST00000675863.1:n.798_800del
ENST00000675886.1:n.6830_6832del
ENST00000676088.1:c.*732_*734del	ENSP00000501884.1:n.*732_*734del
ENST00000676140.1:c.790_792del	ENSP00000502571.1:p.Lys264del
ENST00000676164.1:c.*241_*243del	ENSP00000501986.1:n.*241_*243del
ENST00000676210.1:c.*79_*81del	ENSP00000502373.1:n.*79_*81del
ENST00000676259.1:c.*222_*224del	ENSP00000501980.1:n.*222_*224del
ENST00000676403.1:c.790_792del	ENSP00000502681.1:p.Lys264del
ENST00000389266.7:c.790_792del	ENSP00000373918.3:p.Lys264del
ENST00000478124.5:n.828_830del
NM_001316772.1:c.628_630del	NP_001303701.1:p.Lys210del
NM_002047.2:c.790_792del , LRG_243t1:c.790_792del	NP_002038.2:p.Lys264del
NM_002047.3:c.790_792del	NP_002038.2:p.Lys264del
XM_006715686.1:c.421_423del	XP_006715749.1:p.Lys141del
XM_006715686.2:c.421_423del	XP_006715749.1:p.Lys141del
NM_002047.4:c.790_792del MANE Select	NP_002038.2:p.Lys264del