Canonical Allele Identifier: CA1697811051

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612114_30612115delinsTG , CM000669.2:g.30612114_30612115delinsTG	GRCh38
NC_000007.13:g.30651730_30651731delinsTG , CM000669.1:g.30651730_30651731delinsTG	GRCh37
NC_000007.12:g.30618255_30618256delinsTG	NCBI36
NG_007942.1:g.22550_22551delinsTG , LRG_243:g.22550_22551delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.900_901delinsTG MANE Select	ENSP00000373918.3:p.Thr300=
ENST00000444666.6:c.900_901delinsTG	ENSP00000415447.2:p.Thr300=
ENST00000470392.2:n.990_991delinsTG
ENST00000478124.6:n.963_964delinsTG
ENST00000485784.2:n.979_980delinsTG
ENST00000674616.1:c.*614_*615delinsTG	ENSP00000502408.1:n.*614_*615delinsTG
ENST00000674643.1:c.900_901delinsTG	ENSP00000501636.1:p.Thr300=
ENST00000674734.1:n.1396_1397delinsTG
ENST00000674737.1:c.*238_*239delinsTG	ENSP00000502464.1:n.*238_*239delinsTG
ENST00000674807.1:c.900_901delinsTG	ENSP00000502814.1:p.Thr300=
ENST00000674815.1:c.531_532delinsTG	ENSP00000502799.1:p.Thr177=
ENST00000674851.1:c.531_532delinsTG	ENSP00000502451.1:p.Thr177=
ENST00000674969.1:n.2773_2774delinsTG
ENST00000675051.1:c.699_700delinsTG	ENSP00000502296.1:p.Thr233=
ENST00000675529.1:c.*770_*771delinsTG	ENSP00000501655.1:n.*770_*771delinsTG
ENST00000675587.1:n.916_917delinsTG
ENST00000675651.1:c.900_901delinsTG	ENSP00000502513.1:p.Thr300=
ENST00000675693.1:c.732_733delinsTG	ENSP00000502174.1:p.Thr244=
ENST00000675810.1:c.798_799delinsTG	ENSP00000502743.1:p.Thr266=
ENST00000675859.1:c.900_901delinsTG	ENSP00000502033.1:p.Thr300=
ENST00000675863.1:n.908_909delinsTG
ENST00000675886.1:n.6940_6941delinsTG
ENST00000676088.1:c.*842_*843delinsTG	ENSP00000501884.1:n.*842_*843delinsTG
ENST00000676140.1:c.900_901delinsTG	ENSP00000502571.1:p.Thr300=
ENST00000676164.1:c.*351_*352delinsTG	ENSP00000501986.1:n.*351_*352delinsTG
ENST00000676210.1:c.*189_*190delinsTG	ENSP00000502373.1:n.*189_*190delinsTG
ENST00000676259.1:c.*332_*333delinsTG	ENSP00000501980.1:n.*332_*333delinsTG
ENST00000676403.1:c.900_901delinsTG	ENSP00000502681.1:p.Thr300=
ENST00000389266.7:c.900_901delinsTG	ENSP00000373918.3:p.Thr300=
ENST00000478124.5:n.938_939delinsTG
NM_001316772.1:c.738_739delinsTG	NP_001303701.1:p.Thr246=
NM_002047.2:c.900_901delinsTG , LRG_243t1:c.900_901delinsTG	NP_002038.2:p.Thr300=
NM_002047.3:c.900_901delinsTG	NP_002038.2:p.Thr300=
XM_006715686.1:c.531_532delinsTG	XP_006715749.1:p.Thr177=
XM_006715686.2:c.531_532delinsTG	XP_006715749.1:p.Thr177=
NM_002047.4:c.900_901delinsTG MANE Select	NP_002038.2:p.Thr300=