Canonical Allele Identifier: CA1697778187

Gene: GARS1

Linked Data

• dbSNP Id: rs1783126998

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626333_30626334insGTTGTTTTTTCTTTTT , CM000669.2:g.30626333_30626334insGTTGTTTTTTCTTTTT	GRCh38
NC_000007.13:g.30665949_30665950insGTTGTTTTTTCTTTTT , CM000669.1:g.30665949_30665950insGTTGTTTTTTCTTTTT	GRCh37
NC_000007.12:g.30632474_30632475insGTTGTTTTTTCTTTTT	NCBI36
NG_007942.1:g.36769_36770insGTTGTTTTTTCTTTTT , LRG_243:g.36769_36770insGTTGTTTTTTCTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+14_1699+15insGTTGTTTTTTCTTTTT MANE Select	ENSP00000373918.3:n.1699+14_1699+15insGTTGTTTTTTCTTTTT
ENST00000444666.6:c.1699+14_1699+15insGTTGTTTTTTCTTTTT	ENSP00000415447.2:n.1699+14_1699+15insGTTGTTTTTTCTTTTT
ENST00000470392.2:n.1789+14_1789+15insGTTGTTTTTTCTTTTT
ENST00000485784.2:n.1778+14_1778+15insGTTGTTTTTTCTTTTT
ENST00000674616.1:c.*1413+14_*1413+15insGTTGTTTTTTCTTTTT	ENSP00000502408.1:n.*1413+14_*1413+15insGTTGTTTTTTCTTTTT
ENST00000674643.1:c.*799+14_*799+15insGTTGTTTTTTCTTTTT	ENSP00000501636.1:n.*799+14_*799+15insGTTGTTTTTTCTTTTT
ENST00000674737.1:c.*1037+14_*1037+15insGTTGTTTTTTCTTTTT	ENSP00000502464.1:n.*1037+14_*1037+15insGTTGTTTTTTCTTTTT
ENST00000674807.1:c.1614-2227_1614-2226insGTTGTTTTTTCTTTTT	ENSP00000502814.1:n.1614-2227_1614-2226insGTTGTTTTTTCTTTTT
ENST00000674815.1:c.1330+14_1330+15insGTTGTTTTTTCTTTTT	ENSP00000502799.1:n.1330+14_1330+15insGTTGTTTTTTCTTTTT
ENST00000674851.1:c.1330+14_1330+15insGTTGTTTTTTCTTTTT	ENSP00000502451.1:n.1330+14_1330+15insGTTGTTTTTTCTTTTT
ENST00000674969.1:n.3572+14_3572+15insGTTGTTTTTTCTTTTT
ENST00000675051.1:c.1498+14_1498+15insGTTGTTTTTTCTTTTT	ENSP00000502296.1:n.1498+14_1498+15insGTTGTTTTTTCTTTTT
ENST00000675529.1:c.*1569+14_*1569+15insGTTGTTTTTTCTTTTT	ENSP00000501655.1:n.*1569+14_*1569+15insGTTGTTTTTTCTTTTT
ENST00000675587.1:n.2531+14_2531+15insGTTGTTTTTTCTTTTT
ENST00000675651.1:c.1699+14_1699+15insGTTGTTTTTTCTTTTT	ENSP00000502513.1:n.1699+14_1699+15insGTTGTTTTTTCTTTTT
ENST00000675693.1:c.1531+14_1531+15insGTTGTTTTTTCTTTTT	ENSP00000502174.1:n.1531+14_1531+15insGTTGTTTTTTCTTTTT
ENST00000675810.1:c.1597+14_1597+15insGTTGTTTTTTCTTTTT	ENSP00000502743.1:n.1597+14_1597+15insGTTGTTTTTTCTTTTT
ENST00000675859.1:c.1614-2227_1614-2226insGTTGTTTTTTCTTTTT	ENSP00000502033.1:n.1614-2227_1614-2226insGTTGTTTTTTCTTTTT
ENST00000675863.1:n.1707+14_1707+15insGTTGTTTTTTCTTTTT
ENST00000675886.1:n.7739+14_7739+15insGTTGTTTTTTCTTTTT
ENST00000676088.1:c.*1641+14_*1641+15insGTTGTTTTTTCTTTTT	ENSP00000501884.1:n.*1641+14_*1641+15insGTTGTTTTTTCTTTTT
ENST00000676140.1:c.*644+14_*644+15insGTTGTTTTTTCTTTTT	ENSP00000502571.1:n.*644+14_*644+15insGTTGTTTTTTCTTTTT
ENST00000676164.1:c.*1150+14_*1150+15insGTTGTTTTTTCTTTTT	ENSP00000501986.1:n.*1150+14_*1150+15insGTTGTTTTTTCTTTTT
ENST00000676210.1:c.*988+14_*988+15insGTTGTTTTTTCTTTTT	ENSP00000502373.1:n.*988+14_*988+15insGTTGTTTTTTCTTTTT
ENST00000676259.1:c.*1131+14_*1131+15insGTTGTTTTTTCTTTTT	ENSP00000501980.1:n.*1131+14_*1131+15insGTTGTTTTTTCTTTTT
ENST00000676403.1:c.1699+14_1699+15insGTTGTTTTTTCTTTTT	ENSP00000502681.1:n.1699+14_1699+15insGTTGTTTTTTCTTTTT
ENST00000389266.7:c.1699+14_1699+15insGTTGTTTTTTCTTTTT	ENSP00000373918.3:n.1699+14_1699+15insGTTGTTTTTTCTTTTT
ENST00000444666.5:c.220+14_220+15insGTTGTTTTTTCTTTTT	ENSP00000415447.1:n.220+14_220+15insGTTGTTTTTTCTTTTT
ENST00000470392.1:n.421+14_421+15insGTTGTTTTTTCTTTTT
NM_001316772.1:c.1537+14_1537+15insGTTGTTTTTTCTTTTT	NP_001303701.1:n.1537+14_1537+15insGTTGTTTTTTCTTTTT
NM_002047.2:c.1699+14_1699+15insGTTGTTTTTTCTTTTT , LRG_243t1:c.1699+14_1699+15insGTTGTTTTTTCTTTTT	NP_002038.2:n.1699+14_1699+15insGTTGTTTTTTCTTTTT
NM_002047.3:c.1699+14_1699+15insGTTGTTTTTTCTTTTT	NP_002038.2:n.1699+14_1699+15insGTTGTTTTTTCTTTTT
XM_006715686.1:c.1330+14_1330+15insGTTGTTTTTTCTTTTT	XP_006715749.1:n.1330+14_1330+15insGTTGTTTTTTCTTTTT
XM_006715686.2:c.1330+14_1330+15insGTTGTTTTTTCTTTTT	XP_006715749.1:n.1330+14_1330+15insGTTGTTTTTTCTTTTT
NM_002047.4:c.1699+14_1699+15insGTTGTTTTTTCTTTTT MANE Select	NP_002038.2:n.1699+14_1699+15insGTTGTTTTTTCTTTTT