Canonical Allele Identifier: CA2682251145

Gene: GARS1

Linked Data

• gnomAD v4: 7-30626431-TGCCTCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626432_30626438del , CM000669.2:g.30626432_30626438del	GRCh38
NC_000007.13:g.30666048_30666054del , CM000669.1:g.30666048_30666054del	GRCh37
NC_000007.12:g.30632573_30632579del	NCBI36
NG_007942.1:g.36868_36874del , LRG_243:g.36868_36874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1699+113_1699+119del MANE Select	ENSP00000373918.3:n.1699+113_1699+119del
ENST00000444666.6:c.1699+113_1699+119del	ENSP00000415447.2:n.1699+113_1699+119del
ENST00000470392.2:n.1789+113_1789+119del
ENST00000485784.2:n.1778+113_1778+119del
ENST00000674616.1:c.*1413+113_*1413+119del	ENSP00000502408.1:n.*1413+113_*1413+119del
ENST00000674643.1:c.*799+113_*799+119del	ENSP00000501636.1:n.*799+113_*799+119del
ENST00000674737.1:c.*1037+113_*1037+119del	ENSP00000502464.1:n.*1037+113_*1037+119del
ENST00000674807.1:c.1614-2128_1614-2122del	ENSP00000502814.1:n.1614-2128_1614-2122del
ENST00000674815.1:c.1330+113_1330+119del	ENSP00000502799.1:n.1330+113_1330+119del
ENST00000674851.1:c.1330+113_1330+119del	ENSP00000502451.1:n.1330+113_1330+119del
ENST00000674969.1:n.3572+113_3572+119del
ENST00000675051.1:c.1498+113_1498+119del	ENSP00000502296.1:n.1498+113_1498+119del
ENST00000675529.1:c.*1569+113_*1569+119del	ENSP00000501655.1:n.*1569+113_*1569+119del
ENST00000675587.1:n.2531+113_2531+119del
ENST00000675651.1:c.1699+113_1699+119del	ENSP00000502513.1:n.1699+113_1699+119del
ENST00000675693.1:c.1531+113_1531+119del	ENSP00000502174.1:n.1531+113_1531+119del
ENST00000675810.1:c.1597+113_1597+119del	ENSP00000502743.1:n.1597+113_1597+119del
ENST00000675859.1:c.1614-2128_1614-2122del	ENSP00000502033.1:n.1614-2128_1614-2122del
ENST00000675863.1:n.1707+113_1707+119del
ENST00000675886.1:n.7739+113_7739+119del
ENST00000676088.1:c.*1641+113_*1641+119del	ENSP00000501884.1:n.*1641+113_*1641+119del
ENST00000676140.1:c.*644+113_*644+119del	ENSP00000502571.1:n.*644+113_*644+119del
ENST00000676164.1:c.*1150+113_*1150+119del	ENSP00000501986.1:n.*1150+113_*1150+119del
ENST00000676210.1:c.*988+113_*988+119del	ENSP00000502373.1:n.*988+113_*988+119del
ENST00000676259.1:c.*1131+113_*1131+119del	ENSP00000501980.1:n.*1131+113_*1131+119del
ENST00000676403.1:c.1699+113_1699+119del	ENSP00000502681.1:n.1699+113_1699+119del
ENST00000389266.7:c.1699+113_1699+119del	ENSP00000373918.3:n.1699+113_1699+119del
ENST00000444666.5:c.220+113_220+119del	ENSP00000415447.1:n.220+113_220+119del
ENST00000470392.1:n.421+113_421+119del
NM_001316772.1:c.1537+113_1537+119del	NP_001303701.1:n.1537+113_1537+119del
NM_002047.2:c.1699+113_1699+119del , LRG_243t1:c.1699+113_1699+119del	NP_002038.2:n.1699+113_1699+119del
NM_002047.3:c.1699+113_1699+119del	NP_002038.2:n.1699+113_1699+119del
XM_006715686.1:c.1330+113_1330+119del	XP_006715749.1:n.1330+113_1330+119del
XM_006715686.2:c.1330+113_1330+119del	XP_006715749.1:n.1330+113_1330+119del
NM_002047.4:c.1699+113_1699+119del MANE Select	NP_002038.2:n.1699+113_1699+119del