Canonical Allele Identifier: CA2682248464

Gene: GARS1

Linked Data

• gnomAD v4: 7-30595101-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595106_30595108del , CM000669.2:g.30595106_30595108del	GRCh38
NC_000007.13:g.30634722_30634724del , CM000669.1:g.30634722_30634724del	GRCh37
NC_000007.12:g.30601247_30601249del	NCBI36
NG_007942.1:g.5542_5544del , LRG_243:g.5542_5544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.185_187del MANE Select	ENSP00000373918.3:p.Glu62del
ENST00000444666.6:c.185_187del	ENSP00000415447.2:p.Glu62del
ENST00000454308.6:c.185_187del	ENSP00000392677.2:p.Glu62del
ENST00000470392.2:n.275_277del
ENST00000478124.6:n.248_250del
ENST00000485784.2:n.264_266del
ENST00000674616.1:c.185_187del	ENSP00000502408.1:p.Glu62del
ENST00000674643.1:c.185_187del	ENSP00000501636.1:p.Glu62del
ENST00000674737.1:c.185_187del	ENSP00000502464.1:p.Glu62del
ENST00000674807.1:c.185_187del	ENSP00000502814.1:p.Glu62del
ENST00000674815.1:c.-148+154_-148+156del	ENSP00000502799.1:n.-148+154_-148+156del
ENST00000674851.1:c.-183-2_-183del
ENST00000674969.1:n.225_227del
ENST00000675051.1:c.22-3690_22-3688del	ENSP00000502296.1:n.22-3690_22-3688del
ENST00000675529.1:c.185_187del	ENSP00000501655.1:p.Glu62del
ENST00000675587.1:n.201_203del
ENST00000675651.1:c.185_187del	ENSP00000502513.1:p.Glu62del
ENST00000675693.1:c.19-2_19del
ENST00000675810.1:c.185_187del	ENSP00000502743.1:p.Glu62del
ENST00000675859.1:c.185_187del	ENSP00000502033.1:p.Glu62del
ENST00000675863.1:n.193_195del
ENST00000675886.1:n.213_215del
ENST00000676088.1:c.185_187del	ENSP00000501884.1:p.Glu62del
ENST00000676140.1:c.185_187del	ENSP00000502571.1:p.Glu62del
ENST00000676164.1:c.185_187del	ENSP00000501986.1:p.Glu62del
ENST00000676210.1:c.185_187del	ENSP00000502373.1:p.Glu62del
ENST00000676259.1:c.185_187del	ENSP00000501980.1:p.Glu62del
ENST00000676403.1:c.185_187del	ENSP00000502681.1:p.Glu62del
ENST00000389266.7:c.185_187del	ENSP00000373918.3:p.Glu62del
ENST00000454308.5:c.185_187del	ENSP00000392677.1:p.Glu62del
ENST00000478124.5:n.223_225del
ENST00000627489.1:c.185_187del	ENSP00000485931.1:p.Glu62del
NM_001316772.1:c.23_25del	NP_001303701.1:p.Glu8del
NM_002047.2:c.185_187del , LRG_243t1:c.185_187del	NP_002038.2:p.Glu62del
NM_002047.3:c.185_187del	NP_002038.2:p.Glu62del
XM_006715686.2:c.-295_-293del	XP_006715749.1:n.-295_-293del
NM_002047.4:c.185_187del MANE Select	NP_002038.2:p.Glu62del