Canonical Allele Identifier: CA2501310948

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626579_30626580del , CM000669.2:g.30626579_30626580del	GRCh38
NC_000007.13:g.30666195_30666196del , CM000669.1:g.30666195_30666196del	GRCh37
NC_000007.12:g.30632720_30632721del	NCBI36
NG_007942.1:g.37015_37016del , LRG_243:g.37015_37016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+260_1699+261del MANE Select	ENSP00000373918.3:n.1699+260_1699+261del
ENST00000444666.6:c.1699+260_1699+261del	ENSP00000415447.2:n.1699+260_1699+261del
ENST00000470392.2:n.1789+260_1789+261del
ENST00000485784.2:n.1778+260_1778+261del
ENST00000674616.1:c.*1413+260_*1413+261del	ENSP00000502408.1:n.*1413+260_*1413+261del
ENST00000674643.1:c.*799+260_*799+261del	ENSP00000501636.1:n.*799+260_*799+261del
ENST00000674737.1:c.*1037+260_*1037+261del	ENSP00000502464.1:n.*1037+260_*1037+261del
ENST00000674807.1:c.1614-1981_1614-1980del	ENSP00000502814.1:n.1614-1981_1614-1980del
ENST00000674815.1:c.1330+260_1330+261del	ENSP00000502799.1:n.1330+260_1330+261del
ENST00000674851.1:c.1330+260_1330+261del	ENSP00000502451.1:n.1330+260_1330+261del
ENST00000674969.1:n.3572+260_3572+261del
ENST00000675051.1:c.1498+260_1498+261del	ENSP00000502296.1:n.1498+260_1498+261del
ENST00000675529.1:c.*1569+260_*1569+261del	ENSP00000501655.1:n.*1569+260_*1569+261del
ENST00000675587.1:n.2531+260_2531+261del
ENST00000675651.1:c.1699+260_1699+261del	ENSP00000502513.1:n.1699+260_1699+261del
ENST00000675693.1:c.1531+260_1531+261del	ENSP00000502174.1:n.1531+260_1531+261del
ENST00000675810.1:c.1597+260_1597+261del	ENSP00000502743.1:n.1597+260_1597+261del
ENST00000675859.1:c.1614-1981_1614-1980del	ENSP00000502033.1:n.1614-1981_1614-1980del
ENST00000675863.1:n.1707+260_1707+261del
ENST00000675886.1:n.7739+260_7739+261del
ENST00000676088.1:c.*1641+260_*1641+261del	ENSP00000501884.1:n.*1641+260_*1641+261del
ENST00000676140.1:c.*644+260_*644+261del	ENSP00000502571.1:n.*644+260_*644+261del
ENST00000676164.1:c.*1150+260_*1150+261del	ENSP00000501986.1:n.*1150+260_*1150+261del
ENST00000676210.1:c.*988+260_*988+261del	ENSP00000502373.1:n.*988+260_*988+261del
ENST00000676259.1:c.*1131+260_*1131+261del	ENSP00000501980.1:n.*1131+260_*1131+261del
ENST00000676403.1:c.1699+260_1699+261del	ENSP00000502681.1:n.1699+260_1699+261del
ENST00000389266.7:c.1699+260_1699+261del	ENSP00000373918.3:n.1699+260_1699+261del
ENST00000444666.5:c.220+260_220+261del	ENSP00000415447.1:n.220+260_220+261del
ENST00000470392.1:n.421+260_421+261del
NM_001316772.1:c.1537+260_1537+261del	NP_001303701.1:n.1537+260_1537+261del
NM_002047.2:c.1699+260_1699+261del , LRG_243t1:c.1699+260_1699+261del	NP_002038.2:n.1699+260_1699+261del
NM_002047.3:c.1699+260_1699+261del	NP_002038.2:n.1699+260_1699+261del
XM_006715686.1:c.1330+260_1330+261del	XP_006715749.1:n.1330+260_1330+261del
XM_006715686.2:c.1330+260_1330+261del	XP_006715749.1:n.1330+260_1330+261del
NM_002047.4:c.1699+260_1699+261del MANE Select	NP_002038.2:n.1699+260_1699+261del