Canonical Allele Identifier: CA1697769292

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621264_30621268delinsTTGAA , CM000669.2:g.30621264_30621268delinsTTGAA	GRCh38
NC_000007.13:g.30660880_30660884delinsTTGAA , CM000669.1:g.30660880_30660884delinsTTGAA	GRCh37
NC_000007.12:g.30627405_30627409delinsTTGAA	NCBI36
NG_007942.1:g.31700_31704delinsTTGAA , LRG_243:g.31700_31704delinsTTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1360-129_1360-125delinsTTGAA MANE Select	ENSP00000373918.3:n.1360-129_1360-125delinsTTGAA
ENST00000444666.6:c.1360-129_1360-125delinsTTGAA	ENSP00000415447.2:n.1360-129_1360-125delinsTTGAA
ENST00000470392.2:n.1450-129_1450-125delinsTTGAA
ENST00000478124.6:n.1423-129_1423-125delinsTTGAA
ENST00000485784.2:n.1439-129_1439-125delinsTTGAA
ENST00000674616.1:c.*1074-129_*1074-125delinsTTGAA	ENSP00000502408.1:n.*1074-129_*1074-125delinsTTGAA
ENST00000674643.1:c.*460-129_*460-125delinsTTGAA	ENSP00000501636.1:n.*460-129_*460-125delinsTTGAA
ENST00000674734.1:n.1856-129_1856-125delinsTTGAA
ENST00000674737.1:c.*698-129_*698-125delinsTTGAA	ENSP00000502464.1:n.*698-129_*698-125delinsTTGAA
ENST00000674807.1:c.1360-129_1360-125delinsTTGAA	ENSP00000502814.1:n.1360-129_1360-125delinsTTGAA
ENST00000674815.1:c.991-129_991-125delinsTTGAA	ENSP00000502799.1:n.991-129_991-125delinsTTGAA
ENST00000674851.1:c.991-129_991-125delinsTTGAA	ENSP00000502451.1:n.991-129_991-125delinsTTGAA
ENST00000674969.1:n.3233-129_3233-125delinsTTGAA
ENST00000675051.1:c.1159-129_1159-125delinsTTGAA	ENSP00000502296.1:n.1159-129_1159-125delinsTTGAA
ENST00000675529.1:c.*1230-129_*1230-125delinsTTGAA	ENSP00000501655.1:n.*1230-129_*1230-125delinsTTGAA
ENST00000675587.1:n.1376-129_1376-125delinsTTGAA
ENST00000675651.1:c.1360-129_1360-125delinsTTGAA	ENSP00000502513.1:n.1360-129_1360-125delinsTTGAA
ENST00000675693.1:c.1192-129_1192-125delinsTTGAA	ENSP00000502174.1:n.1192-129_1192-125delinsTTGAA
ENST00000675810.1:c.1258-129_1258-125delinsTTGAA	ENSP00000502743.1:n.1258-129_1258-125delinsTTGAA
ENST00000675859.1:c.1360-129_1360-125delinsTTGAA	ENSP00000502033.1:n.1360-129_1360-125delinsTTGAA
ENST00000675863.1:n.1368-129_1368-125delinsTTGAA
ENST00000675886.1:n.7400-129_7400-125delinsTTGAA
ENST00000676088.1:c.*1302-129_*1302-125delinsTTGAA	ENSP00000501884.1:n.*1302-129_*1302-125delinsTTGAA
ENST00000676140.1:c.*305-129_*305-125delinsTTGAA	ENSP00000502571.1:n.*305-129_*305-125delinsTTGAA
ENST00000676164.1:c.*811-129_*811-125delinsTTGAA	ENSP00000501986.1:n.*811-129_*811-125delinsTTGAA
ENST00000676210.1:c.*649-129_*649-125delinsTTGAA	ENSP00000502373.1:n.*649-129_*649-125delinsTTGAA
ENST00000676259.1:c.*792-129_*792-125delinsTTGAA	ENSP00000501980.1:n.*792-129_*792-125delinsTTGAA
ENST00000676403.1:c.1360-129_1360-125delinsTTGAA	ENSP00000502681.1:n.1360-129_1360-125delinsTTGAA
ENST00000389266.7:c.1360-129_1360-125delinsTTGAA	ENSP00000373918.3:n.1360-129_1360-125delinsTTGAA
ENST00000478124.5:n.1398-129_1398-125delinsTTGAA
ENST00000484093.1:n.359-129_359-125delinsTTGAA
NM_001316772.1:c.1198-129_1198-125delinsTTGAA	NP_001303701.1:n.1198-129_1198-125delinsTTGAA
NM_002047.2:c.1360-129_1360-125delinsTTGAA , LRG_243t1:c.1360-129_1360-125delinsTTGAA	NP_002038.2:n.1360-129_1360-125delinsTTGAA
NM_002047.3:c.1360-129_1360-125delinsTTGAA	NP_002038.2:n.1360-129_1360-125delinsTTGAA
XM_006715686.1:c.991-129_991-125delinsTTGAA	XP_006715749.1:n.991-129_991-125delinsTTGAA
XM_006715686.2:c.991-129_991-125delinsTTGAA	XP_006715749.1:n.991-129_991-125delinsTTGAA
NM_002047.4:c.1360-129_1360-125delinsTTGAA MANE Select	NP_002038.2:n.1360-129_1360-125delinsTTGAA