Canonical Allele Identifier: CA1697778881

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626661_30626664delinsGTCT , CM000669.2:g.30626661_30626664delinsGTCT	GRCh38
NC_000007.13:g.30666277_30666280delinsGTCT , CM000669.1:g.30666277_30666280delinsGTCT	GRCh37
NC_000007.12:g.30632802_30632805delinsGTCT	NCBI36
NG_007942.1:g.37097_37100delinsGTCT , LRG_243:g.37097_37100delinsGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+342_1699+345delinsGTCT MANE Select	ENSP00000373918.3:n.1699+342_1699+345delinsGTCT
ENST00000444666.6:c.1699+342_1699+345delinsGTCT	ENSP00000415447.2:n.1699+342_1699+345delinsGTCT
ENST00000470392.2:n.1789+342_1789+345delinsGTCT
ENST00000485784.2:n.1778+342_1778+345delinsGTCT
ENST00000674616.1:c.*1413+342_*1413+345delinsGTCT	ENSP00000502408.1:n.*1413+342_*1413+345delinsGTCT
ENST00000674643.1:c.*799+342_*799+345delinsGTCT	ENSP00000501636.1:n.*799+342_*799+345delinsGTCT
ENST00000674737.1:c.*1037+342_*1037+345delinsGTCT	ENSP00000502464.1:n.*1037+342_*1037+345delinsGTCT
ENST00000674807.1:c.1614-1899_1614-1896delinsGTCT	ENSP00000502814.1:n.1614-1899_1614-1896delinsGTCT
ENST00000674815.1:c.1330+342_1330+345delinsGTCT	ENSP00000502799.1:n.1330+342_1330+345delinsGTCT
ENST00000674851.1:c.1330+342_1330+345delinsGTCT	ENSP00000502451.1:n.1330+342_1330+345delinsGTCT
ENST00000674969.1:n.3572+342_3572+345delinsGTCT
ENST00000675051.1:c.1498+342_1498+345delinsGTCT	ENSP00000502296.1:n.1498+342_1498+345delinsGTCT
ENST00000675529.1:c.*1569+342_*1569+345delinsGTCT	ENSP00000501655.1:n.*1569+342_*1569+345delinsGTCT
ENST00000675587.1:n.2531+342_2531+345delinsGTCT
ENST00000675651.1:c.1699+342_1699+345delinsGTCT	ENSP00000502513.1:n.1699+342_1699+345delinsGTCT
ENST00000675693.1:c.1531+342_1531+345delinsGTCT	ENSP00000502174.1:n.1531+342_1531+345delinsGTCT
ENST00000675810.1:c.1597+342_1597+345delinsGTCT	ENSP00000502743.1:n.1597+342_1597+345delinsGTCT
ENST00000675859.1:c.1614-1899_1614-1896delinsGTCT	ENSP00000502033.1:n.1614-1899_1614-1896delinsGTCT
ENST00000675863.1:n.1707+342_1707+345delinsGTCT
ENST00000675886.1:n.7739+342_7739+345delinsGTCT
ENST00000676088.1:c.*1641+342_*1641+345delinsGTCT	ENSP00000501884.1:n.*1641+342_*1641+345delinsGTCT
ENST00000676140.1:c.*644+342_*644+345delinsGTCT	ENSP00000502571.1:n.*644+342_*644+345delinsGTCT
ENST00000676164.1:c.*1150+342_*1150+345delinsGTCT	ENSP00000501986.1:n.*1150+342_*1150+345delinsGTCT
ENST00000676210.1:c.*988+342_*988+345delinsGTCT	ENSP00000502373.1:n.*988+342_*988+345delinsGTCT
ENST00000676259.1:c.*1131+342_*1131+345delinsGTCT	ENSP00000501980.1:n.*1131+342_*1131+345delinsGTCT
ENST00000676403.1:c.1699+342_1699+345delinsGTCT	ENSP00000502681.1:n.1699+342_1699+345delinsGTCT
ENST00000389266.7:c.1699+342_1699+345delinsGTCT	ENSP00000373918.3:n.1699+342_1699+345delinsGTCT
ENST00000444666.5:c.220+342_220+345delinsGTCT	ENSP00000415447.1:n.220+342_220+345delinsGTCT
ENST00000470392.1:n.421+342_421+345delinsGTCT
NM_001316772.1:c.1537+342_1537+345delinsGTCT	NP_001303701.1:n.1537+342_1537+345delinsGTCT
NM_002047.2:c.1699+342_1699+345delinsGTCT , LRG_243t1:c.1699+342_1699+345delinsGTCT	NP_002038.2:n.1699+342_1699+345delinsGTCT
NM_002047.3:c.1699+342_1699+345delinsGTCT	NP_002038.2:n.1699+342_1699+345delinsGTCT
XM_006715686.1:c.1330+342_1330+345delinsGTCT	XP_006715749.1:n.1330+342_1330+345delinsGTCT
XM_006715686.2:c.1330+342_1330+345delinsGTCT	XP_006715749.1:n.1330+342_1330+345delinsGTCT
NM_002047.4:c.1699+342_1699+345delinsGTCT MANE Select	NP_002038.2:n.1699+342_1699+345delinsGTCT