Canonical Allele Identifier: CA1099847640

Gene: GARS1

Linked Data

• dbSNP Id: rs1782778985
• gnomAD v3: 7-30612448-TGAAGG-T
• gnomAD v4: 7-30612448-TGAAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612452_30612456del , CM000669.2:g.30612452_30612456del	GRCh38
NC_000007.13:g.30652068_30652072del , CM000669.1:g.30652068_30652072del	GRCh37
NC_000007.12:g.30618593_30618597del	NCBI36
NG_007942.1:g.22888_22892del , LRG_243:g.22888_22892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1031+207_1031+211del MANE Select	ENSP00000373918.3:n.1031+207_1031+211del
ENST00000444666.6:c.1031+207_1031+211del	ENSP00000415447.2:n.1031+207_1031+211del
ENST00000470392.2:n.1121+207_1121+211del
ENST00000478124.6:n.1094+207_1094+211del
ENST00000485784.2:n.1110+207_1110+211del
ENST00000674616.1:c.*745+207_*745+211del	ENSP00000502408.1:n.*745+207_*745+211del
ENST00000674643.1:c.1031+207_1031+211del	ENSP00000501636.1:n.1031+207_1031+211del
ENST00000674734.1:n.1527+207_1527+211del
ENST00000674737.1:c.*369+207_*369+211del	ENSP00000502464.1:n.*369+207_*369+211del
ENST00000674807.1:c.1031+207_1031+211del	ENSP00000502814.1:n.1031+207_1031+211del
ENST00000674815.1:c.662+207_662+211del	ENSP00000502799.1:n.662+207_662+211del
ENST00000674851.1:c.662+207_662+211del	ENSP00000502451.1:n.662+207_662+211del
ENST00000674969.1:n.2904+207_2904+211del
ENST00000675051.1:c.830+207_830+211del	ENSP00000502296.1:n.830+207_830+211del
ENST00000675529.1:c.*901+207_*901+211del	ENSP00000501655.1:n.*901+207_*901+211del
ENST00000675587.1:n.1047+207_1047+211del
ENST00000675651.1:c.1031+207_1031+211del	ENSP00000502513.1:n.1031+207_1031+211del
ENST00000675693.1:c.863+207_863+211del	ENSP00000502174.1:n.863+207_863+211del
ENST00000675810.1:c.929+207_929+211del	ENSP00000502743.1:n.929+207_929+211del
ENST00000675859.1:c.1031+207_1031+211del	ENSP00000502033.1:n.1031+207_1031+211del
ENST00000675863.1:n.1039+207_1039+211del
ENST00000675886.1:n.7071+207_7071+211del
ENST00000676088.1:c.*973+207_*973+211del	ENSP00000501884.1:n.*973+207_*973+211del
ENST00000676140.1:c.1031+207_1031+211del	ENSP00000502571.1:n.1031+207_1031+211del
ENST00000676164.1:c.*482+207_*482+211del	ENSP00000501986.1:n.*482+207_*482+211del
ENST00000676210.1:c.*320+207_*320+211del	ENSP00000502373.1:n.*320+207_*320+211del
ENST00000676259.1:c.*463+207_*463+211del	ENSP00000501980.1:n.*463+207_*463+211del
ENST00000676403.1:c.1031+207_1031+211del	ENSP00000502681.1:n.1031+207_1031+211del
ENST00000389266.7:c.1031+207_1031+211del	ENSP00000373918.3:n.1031+207_1031+211del
ENST00000478124.5:n.1069+207_1069+211del
NM_001316772.1:c.869+207_869+211del	NP_001303701.1:n.869+207_869+211del
NM_002047.2:c.1031+207_1031+211del , LRG_243t1:c.1031+207_1031+211del	NP_002038.2:n.1031+207_1031+211del
NM_002047.3:c.1031+207_1031+211del	NP_002038.2:n.1031+207_1031+211del
XM_006715686.1:c.662+207_662+211del	XP_006715749.1:n.662+207_662+211del
XM_006715686.2:c.662+207_662+211del	XP_006715749.1:n.662+207_662+211del
NM_002047.4:c.1031+207_1031+211del MANE Select	NP_002038.2:n.1031+207_1031+211del