Canonical Allele Identifier: CA2695207553

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612108_30612119del , CM000669.2:g.30612108_30612119del	GRCh38
NC_000007.13:g.30651724_30651735del , CM000669.1:g.30651724_30651735del	GRCh37
NC_000007.12:g.30618249_30618260del	NCBI36
NG_007942.1:g.22544_22555del , LRG_243:g.22544_22555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.894_905del MANE Select	ENSP00000373918.3:p.Glu299_Gln302del
ENST00000444666.6:c.894_905del	ENSP00000415447.2:p.Glu299_Gln302del
ENST00000470392.2:n.984_995del
ENST00000478124.6:n.957_968del
ENST00000485784.2:n.973_984del
ENST00000674616.1:c.*608_*619del	ENSP00000502408.1:n.*608_*619del
ENST00000674643.1:c.894_905del	ENSP00000501636.1:p.Glu299_Gln302del
ENST00000674734.1:n.1390_1401del
ENST00000674737.1:c.*232_*243del	ENSP00000502464.1:n.*232_*243del
ENST00000674807.1:c.894_905del	ENSP00000502814.1:p.Glu299_Gln302del
ENST00000674815.1:c.525_536del	ENSP00000502799.1:p.Glu176_Gln179del
ENST00000674851.1:c.525_536del	ENSP00000502451.1:p.Glu176_Gln179del
ENST00000674969.1:n.2767_2778del
ENST00000675051.1:c.693_704del	ENSP00000502296.1:p.Glu232_Gln235del
ENST00000675529.1:c.*764_*775del	ENSP00000501655.1:n.*764_*775del
ENST00000675587.1:n.910_921del
ENST00000675651.1:c.894_905del	ENSP00000502513.1:p.Glu299_Gln302del
ENST00000675693.1:c.726_737del	ENSP00000502174.1:p.Glu243_Gln246del
ENST00000675810.1:c.792_803del	ENSP00000502743.1:p.Glu265_Gln268del
ENST00000675859.1:c.894_905del	ENSP00000502033.1:p.Glu299_Gln302del
ENST00000675863.1:n.902_913del
ENST00000675886.1:n.6934_6945del
ENST00000676088.1:c.*836_*847del	ENSP00000501884.1:n.*836_*847del
ENST00000676140.1:c.894_905del	ENSP00000502571.1:p.Glu299_Gln302del
ENST00000676164.1:c.*345_*356del	ENSP00000501986.1:n.*345_*356del
ENST00000676210.1:c.*183_*194del	ENSP00000502373.1:n.*183_*194del
ENST00000676259.1:c.*326_*337del	ENSP00000501980.1:n.*326_*337del
ENST00000676403.1:c.894_905del	ENSP00000502681.1:p.Glu299_Gln302del
ENST00000389266.7:c.894_905del	ENSP00000373918.3:p.Glu299_Gln302del
ENST00000478124.5:n.932_943del
NM_001316772.1:c.732_743del	NP_001303701.1:p.Glu245_Gln248del
NM_002047.2:c.894_905del , LRG_243t1:c.894_905del	NP_002038.2:p.Glu299_Gln302del
NM_002047.3:c.894_905del	NP_002038.2:p.Glu299_Gln302del
XM_006715686.1:c.525_536del	XP_006715749.1:p.Glu176_Gln179del
XM_006715686.2:c.525_536del	XP_006715749.1:p.Glu176_Gln179del
NM_002047.4:c.894_905del MANE Select	NP_002038.2:p.Glu299_Gln302del