Canonical Allele Identifier: CA2682251086

Gene: GARS1

Linked Data

• gnomAD v4: 7-30626391-TTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626393_30626395del , CM000669.2:g.30626393_30626395del	GRCh38
NC_000007.13:g.30666009_30666011del , CM000669.1:g.30666009_30666011del	GRCh37
NC_000007.12:g.30632534_30632536del	NCBI36
NG_007942.1:g.36829_36831del , LRG_243:g.36829_36831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+74_1699+76del MANE Select	ENSP00000373918.3:n.1699+74_1699+76del
ENST00000444666.6:c.1699+74_1699+76del	ENSP00000415447.2:n.1699+74_1699+76del
ENST00000470392.2:n.1789+74_1789+76del
ENST00000485784.2:n.1778+74_1778+76del
ENST00000674616.1:c.*1413+74_*1413+76del	ENSP00000502408.1:n.*1413+74_*1413+76del
ENST00000674643.1:c.*799+74_*799+76del	ENSP00000501636.1:n.*799+74_*799+76del
ENST00000674737.1:c.*1037+74_*1037+76del	ENSP00000502464.1:n.*1037+74_*1037+76del
ENST00000674807.1:c.1614-2167_1614-2165del	ENSP00000502814.1:n.1614-2167_1614-2165del
ENST00000674815.1:c.1330+74_1330+76del	ENSP00000502799.1:n.1330+74_1330+76del
ENST00000674851.1:c.1330+74_1330+76del	ENSP00000502451.1:n.1330+74_1330+76del
ENST00000674969.1:n.3572+74_3572+76del
ENST00000675051.1:c.1498+74_1498+76del	ENSP00000502296.1:n.1498+74_1498+76del
ENST00000675529.1:c.*1569+74_*1569+76del	ENSP00000501655.1:n.*1569+74_*1569+76del
ENST00000675587.1:n.2531+74_2531+76del
ENST00000675651.1:c.1699+74_1699+76del	ENSP00000502513.1:n.1699+74_1699+76del
ENST00000675693.1:c.1531+74_1531+76del	ENSP00000502174.1:n.1531+74_1531+76del
ENST00000675810.1:c.1597+74_1597+76del	ENSP00000502743.1:n.1597+74_1597+76del
ENST00000675859.1:c.1614-2167_1614-2165del	ENSP00000502033.1:n.1614-2167_1614-2165del
ENST00000675863.1:n.1707+74_1707+76del
ENST00000675886.1:n.7739+74_7739+76del
ENST00000676088.1:c.*1641+74_*1641+76del	ENSP00000501884.1:n.*1641+74_*1641+76del
ENST00000676140.1:c.*644+74_*644+76del	ENSP00000502571.1:n.*644+74_*644+76del
ENST00000676164.1:c.*1150+74_*1150+76del	ENSP00000501986.1:n.*1150+74_*1150+76del
ENST00000676210.1:c.*988+74_*988+76del	ENSP00000502373.1:n.*988+74_*988+76del
ENST00000676259.1:c.*1131+74_*1131+76del	ENSP00000501980.1:n.*1131+74_*1131+76del
ENST00000676403.1:c.1699+74_1699+76del	ENSP00000502681.1:n.1699+74_1699+76del
ENST00000389266.7:c.1699+74_1699+76del	ENSP00000373918.3:n.1699+74_1699+76del
ENST00000444666.5:c.220+74_220+76del	ENSP00000415447.1:n.220+74_220+76del
ENST00000470392.1:n.421+74_421+76del
NM_001316772.1:c.1537+74_1537+76del	NP_001303701.1:n.1537+74_1537+76del
NM_002047.2:c.1699+74_1699+76del , LRG_243t1:c.1699+74_1699+76del	NP_002038.2:n.1699+74_1699+76del
NM_002047.3:c.1699+74_1699+76del	NP_002038.2:n.1699+74_1699+76del
XM_006715686.1:c.1330+74_1330+76del	XP_006715749.1:n.1330+74_1330+76del
XM_006715686.2:c.1330+74_1330+76del	XP_006715749.1:n.1330+74_1330+76del
NM_002047.4:c.1699+74_1699+76del MANE Select	NP_002038.2:n.1699+74_1699+76del