Canonical Allele Identifier: CA1697778877
Gene: GARS1 HGNC NCBI

Linked Data

dbSNP Id: rs1783134405

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30626659_30626660del , CM000669.2:g.30626659_30626660del GRCh38
NC_000007.13:g.30666275_30666276del , CM000669.1:g.30666275_30666276del GRCh37
NC_000007.12:g.30632800_30632801del NCBI36
NG_007942.1:g.37095_37096del , LRG_243:g.37095_37096del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1699+340_1699+341del MANE Select ENSP00000373918.3:n.1699+340_1699+341del
ENST00000444666.6:c.1699+340_1699+341del ENSP00000415447.2:n.1699+340_1699+341del
ENST00000470392.2:n.1789+340_1789+341del
ENST00000485784.2:n.1778+340_1778+341del
ENST00000674616.1:c.*1413+340_*1413+341del ENSP00000502408.1:n.*1413+340_*1413+341del
ENST00000674643.1:c.*799+340_*799+341del ENSP00000501636.1:n.*799+340_*799+341del
ENST00000674737.1:c.*1037+340_*1037+341del ENSP00000502464.1:n.*1037+340_*1037+341del
ENST00000674807.1:c.1614-1901_1614-1900del ENSP00000502814.1:n.1614-1901_1614-1900del
ENST00000674815.1:c.1330+340_1330+341del ENSP00000502799.1:n.1330+340_1330+341del
ENST00000674851.1:c.1330+340_1330+341del ENSP00000502451.1:n.1330+340_1330+341del
ENST00000674969.1:n.3572+340_3572+341del
ENST00000675051.1:c.1498+340_1498+341del ENSP00000502296.1:n.1498+340_1498+341del
ENST00000675529.1:c.*1569+340_*1569+341del ENSP00000501655.1:n.*1569+340_*1569+341del
ENST00000675587.1:n.2531+340_2531+341del
ENST00000675651.1:c.1699+340_1699+341del ENSP00000502513.1:n.1699+340_1699+341del
ENST00000675693.1:c.1531+340_1531+341del ENSP00000502174.1:n.1531+340_1531+341del
ENST00000675810.1:c.1597+340_1597+341del ENSP00000502743.1:n.1597+340_1597+341del
ENST00000675859.1:c.1614-1901_1614-1900del ENSP00000502033.1:n.1614-1901_1614-1900del
ENST00000675863.1:n.1707+340_1707+341del
ENST00000675886.1:n.7739+340_7739+341del
ENST00000676088.1:c.*1641+340_*1641+341del ENSP00000501884.1:n.*1641+340_*1641+341del
ENST00000676140.1:c.*644+340_*644+341del ENSP00000502571.1:n.*644+340_*644+341del
ENST00000676164.1:c.*1150+340_*1150+341del ENSP00000501986.1:n.*1150+340_*1150+341del
ENST00000676210.1:c.*988+340_*988+341del ENSP00000502373.1:n.*988+340_*988+341del
ENST00000676259.1:c.*1131+340_*1131+341del ENSP00000501980.1:n.*1131+340_*1131+341del
ENST00000676403.1:c.1699+340_1699+341del ENSP00000502681.1:n.1699+340_1699+341del
ENST00000389266.7:c.1699+340_1699+341del ENSP00000373918.3:n.1699+340_1699+341del
ENST00000444666.5:c.220+340_220+341del ENSP00000415447.1:n.220+340_220+341del
ENST00000470392.1:n.421+340_421+341del
NM_001316772.1:c.1537+340_1537+341del NP_001303701.1:n.1537+340_1537+341del
NM_002047.2:c.1699+340_1699+341del , LRG_243t1:c.1699+340_1699+341del NP_002038.2:n.1699+340_1699+341del
NM_002047.3:c.1699+340_1699+341del NP_002038.2:n.1699+340_1699+341del
XM_006715686.1:c.1330+340_1330+341del XP_006715749.1:n.1330+340_1330+341del
XM_006715686.2:c.1330+340_1330+341del XP_006715749.1:n.1330+340_1330+341del
NM_002047.4:c.1699+340_1699+341del MANE Select NP_002038.2:n.1699+340_1699+341del