Canonical Allele Identifier: CA2552434704

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609625_30609626del , CM000669.2:g.30609625_30609626del	GRCh38
NC_000007.13:g.30649241_30649242del , CM000669.1:g.30649241_30649242del	GRCh37
NC_000007.12:g.30615766_30615767del	NCBI36
NG_007942.1:g.20061_20062del , LRG_243:g.20061_20062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.776_777del MANE Select	ENSP00000373918.3:p.Val259GlufsTer3
ENST00000444666.6:c.776_777del	ENSP00000415447.2:p.Val259GlufsTer3
ENST00000470392.2:n.866_867del
ENST00000478124.6:n.839_840del
ENST00000485784.2:n.855_856del
ENST00000674616.1:c.*490_*491del	ENSP00000502408.1:n.*490_*491del
ENST00000674643.1:c.776_777del	ENSP00000501636.1:p.Val259GlufsTer3
ENST00000674734.1:n.1272_1273del
ENST00000674737.1:c.*114_*115del	ENSP00000502464.1:n.*114_*115del
ENST00000674807.1:c.776_777del	ENSP00000502814.1:p.Val259GlufsTer3
ENST00000674815.1:c.407_408del	ENSP00000502799.1:p.Val136GlufsTer3
ENST00000674851.1:c.407_408del	ENSP00000502451.1:p.Val136GlufsTer3
ENST00000674969.1:n.2649_2650del
ENST00000675051.1:c.575_576del	ENSP00000502296.1:p.Val192GlufsTer3
ENST00000675529.1:c.*646_*647del	ENSP00000501655.1:n.*646_*647del
ENST00000675587.1:n.792_793del
ENST00000675651.1:c.776_777del	ENSP00000502513.1:p.Val259GlufsTer3
ENST00000675693.1:c.608_609del	ENSP00000502174.1:p.Val203GlufsTer3
ENST00000675810.1:c.674_675del	ENSP00000502743.1:p.Val225GlufsTer3
ENST00000675859.1:c.776_777del	ENSP00000502033.1:p.Val259GlufsTer3
ENST00000675863.1:n.784_785del
ENST00000675886.1:n.6816_6817del
ENST00000676088.1:c.*718_*719del	ENSP00000501884.1:n.*718_*719del
ENST00000676140.1:c.776_777del	ENSP00000502571.1:p.Val259GlufsTer3
ENST00000676164.1:c.*227_*228del	ENSP00000501986.1:n.*227_*228del
ENST00000676210.1:c.*65_*66del	ENSP00000502373.1:n.*65_*66del
ENST00000676259.1:c.*208_*209del	ENSP00000501980.1:n.*208_*209del
ENST00000676403.1:c.776_777del	ENSP00000502681.1:p.Val259GlufsTer3
ENST00000389266.7:c.776_777del	ENSP00000373918.3:p.Val259GlufsTer3
ENST00000478124.5:n.814_815del
NM_001316772.1:c.614_615del	NP_001303701.1:p.Val205GlufsTer3
NM_002047.2:c.776_777del , LRG_243t1:c.776_777del	NP_002038.2:p.Val259GlufsTer3
NM_002047.3:c.776_777del	NP_002038.2:p.Val259GlufsTer3
XM_006715686.1:c.407_408del	XP_006715749.1:p.Val136GlufsTer3
XM_006715686.2:c.407_408del	XP_006715749.1:p.Val136GlufsTer3
NM_002047.4:c.776_777del MANE Select	NP_002038.2:p.Val259GlufsTer3