Canonical Allele Identifier: CA2682251129

Gene: GARS1

Linked Data

• gnomAD v4: 7-30626420-G-GTGCCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626420_30626421insTGCCACT , CM000669.2:g.30626420_30626421insTGCCACT	GRCh38
NC_000007.13:g.30666036_30666037insTGCCACT , CM000669.1:g.30666036_30666037insTGCCACT	GRCh37
NC_000007.12:g.30632561_30632562insTGCCACT	NCBI36
NG_007942.1:g.36856_36857insTGCCACT , LRG_243:g.36856_36857insTGCCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+101_1699+102insTGCCACT MANE Select	ENSP00000373918.3:n.1699+101_1699+102insTGCCACT
ENST00000444666.6:c.1699+101_1699+102insTGCCACT	ENSP00000415447.2:n.1699+101_1699+102insTGCCACT
ENST00000470392.2:n.1789+101_1789+102insTGCCACT
ENST00000485784.2:n.1778+101_1778+102insTGCCACT
ENST00000674616.1:c.*1413+101_*1413+102insTGCCACT	ENSP00000502408.1:n.*1413+101_*1413+102insTGCCACT
ENST00000674643.1:c.*799+101_*799+102insTGCCACT	ENSP00000501636.1:n.*799+101_*799+102insTGCCACT
ENST00000674737.1:c.*1037+101_*1037+102insTGCCACT	ENSP00000502464.1:n.*1037+101_*1037+102insTGCCACT
ENST00000674807.1:c.1614-2140_1614-2139insTGCCACT	ENSP00000502814.1:n.1614-2140_1614-2139insTGCCACT
ENST00000674815.1:c.1330+101_1330+102insTGCCACT	ENSP00000502799.1:n.1330+101_1330+102insTGCCACT
ENST00000674851.1:c.1330+101_1330+102insTGCCACT	ENSP00000502451.1:n.1330+101_1330+102insTGCCACT
ENST00000674969.1:n.3572+101_3572+102insTGCCACT
ENST00000675051.1:c.1498+101_1498+102insTGCCACT	ENSP00000502296.1:n.1498+101_1498+102insTGCCACT
ENST00000675529.1:c.*1569+101_*1569+102insTGCCACT	ENSP00000501655.1:n.*1569+101_*1569+102insTGCCACT
ENST00000675587.1:n.2531+101_2531+102insTGCCACT
ENST00000675651.1:c.1699+101_1699+102insTGCCACT	ENSP00000502513.1:n.1699+101_1699+102insTGCCACT
ENST00000675693.1:c.1531+101_1531+102insTGCCACT	ENSP00000502174.1:n.1531+101_1531+102insTGCCACT
ENST00000675810.1:c.1597+101_1597+102insTGCCACT	ENSP00000502743.1:n.1597+101_1597+102insTGCCACT
ENST00000675859.1:c.1614-2140_1614-2139insTGCCACT	ENSP00000502033.1:n.1614-2140_1614-2139insTGCCACT
ENST00000675863.1:n.1707+101_1707+102insTGCCACT
ENST00000675886.1:n.7739+101_7739+102insTGCCACT
ENST00000676088.1:c.*1641+101_*1641+102insTGCCACT	ENSP00000501884.1:n.*1641+101_*1641+102insTGCCACT
ENST00000676140.1:c.*644+101_*644+102insTGCCACT	ENSP00000502571.1:n.*644+101_*644+102insTGCCACT
ENST00000676164.1:c.*1150+101_*1150+102insTGCCACT	ENSP00000501986.1:n.*1150+101_*1150+102insTGCCACT
ENST00000676210.1:c.*988+101_*988+102insTGCCACT	ENSP00000502373.1:n.*988+101_*988+102insTGCCACT
ENST00000676259.1:c.*1131+101_*1131+102insTGCCACT	ENSP00000501980.1:n.*1131+101_*1131+102insTGCCACT
ENST00000676403.1:c.1699+101_1699+102insTGCCACT	ENSP00000502681.1:n.1699+101_1699+102insTGCCACT
ENST00000389266.7:c.1699+101_1699+102insTGCCACT	ENSP00000373918.3:n.1699+101_1699+102insTGCCACT
ENST00000444666.5:c.220+101_220+102insTGCCACT	ENSP00000415447.1:n.220+101_220+102insTGCCACT
ENST00000470392.1:n.421+101_421+102insTGCCACT
NM_001316772.1:c.1537+101_1537+102insTGCCACT	NP_001303701.1:n.1537+101_1537+102insTGCCACT
NM_002047.2:c.1699+101_1699+102insTGCCACT , LRG_243t1:c.1699+101_1699+102insTGCCACT	NP_002038.2:n.1699+101_1699+102insTGCCACT
NM_002047.3:c.1699+101_1699+102insTGCCACT	NP_002038.2:n.1699+101_1699+102insTGCCACT
XM_006715686.1:c.1330+101_1330+102insTGCCACT	XP_006715749.1:n.1330+101_1330+102insTGCCACT
XM_006715686.2:c.1330+101_1330+102insTGCCACT	XP_006715749.1:n.1330+101_1330+102insTGCCACT
NM_002047.4:c.1699+101_1699+102insTGCCACT MANE Select	NP_002038.2:n.1699+101_1699+102insTGCCACT