Canonical Allele Identifier: CA1697778786
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30626626_30626628delinsCAG , CM000669.2:g.30626626_30626628delinsCAG GRCh38
NC_000007.13:g.30666242_30666244delinsCAG , CM000669.1:g.30666242_30666244delinsCAG GRCh37
NC_000007.12:g.30632767_30632769delinsCAG NCBI36
NG_007942.1:g.37062_37064delinsCAG , LRG_243:g.37062_37064delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1699+307_1699+309delinsCAG MANE Select ENSP00000373918.3:n.1699+307_1699+309delinsCAG
ENST00000444666.6:c.1699+307_1699+309delinsCAG ENSP00000415447.2:n.1699+307_1699+309delinsCAG
ENST00000470392.2:n.1789+307_1789+309delinsCAG
ENST00000485784.2:n.1778+307_1778+309delinsCAG
ENST00000674616.1:c.*1413+307_*1413+309delinsCAG ENSP00000502408.1:n.*1413+307_*1413+309delinsCAG
ENST00000674643.1:c.*799+307_*799+309delinsCAG ENSP00000501636.1:n.*799+307_*799+309delinsCAG
ENST00000674737.1:c.*1037+307_*1037+309delinsCAG ENSP00000502464.1:n.*1037+307_*1037+309delinsCAG
ENST00000674807.1:c.1614-1934_1614-1932delinsCAG ENSP00000502814.1:n.1614-1934_1614-1932delinsCAG
ENST00000674815.1:c.1330+307_1330+309delinsCAG ENSP00000502799.1:n.1330+307_1330+309delinsCAG
ENST00000674851.1:c.1330+307_1330+309delinsCAG ENSP00000502451.1:n.1330+307_1330+309delinsCAG
ENST00000674969.1:n.3572+307_3572+309delinsCAG
ENST00000675051.1:c.1498+307_1498+309delinsCAG ENSP00000502296.1:n.1498+307_1498+309delinsCAG
ENST00000675529.1:c.*1569+307_*1569+309delinsCAG ENSP00000501655.1:n.*1569+307_*1569+309delinsCAG
ENST00000675587.1:n.2531+307_2531+309delinsCAG
ENST00000675651.1:c.1699+307_1699+309delinsCAG ENSP00000502513.1:n.1699+307_1699+309delinsCAG
ENST00000675693.1:c.1531+307_1531+309delinsCAG ENSP00000502174.1:n.1531+307_1531+309delinsCAG
ENST00000675810.1:c.1597+307_1597+309delinsCAG ENSP00000502743.1:n.1597+307_1597+309delinsCAG
ENST00000675859.1:c.1614-1934_1614-1932delinsCAG ENSP00000502033.1:n.1614-1934_1614-1932delinsCAG
ENST00000675863.1:n.1707+307_1707+309delinsCAG
ENST00000675886.1:n.7739+307_7739+309delinsCAG
ENST00000676088.1:c.*1641+307_*1641+309delinsCAG ENSP00000501884.1:n.*1641+307_*1641+309delinsCAG
ENST00000676140.1:c.*644+307_*644+309delinsCAG ENSP00000502571.1:n.*644+307_*644+309delinsCAG
ENST00000676164.1:c.*1150+307_*1150+309delinsCAG ENSP00000501986.1:n.*1150+307_*1150+309delinsCAG
ENST00000676210.1:c.*988+307_*988+309delinsCAG ENSP00000502373.1:n.*988+307_*988+309delinsCAG
ENST00000676259.1:c.*1131+307_*1131+309delinsCAG ENSP00000501980.1:n.*1131+307_*1131+309delinsCAG
ENST00000676403.1:c.1699+307_1699+309delinsCAG ENSP00000502681.1:n.1699+307_1699+309delinsCAG
ENST00000389266.7:c.1699+307_1699+309delinsCAG ENSP00000373918.3:n.1699+307_1699+309delinsCAG
ENST00000444666.5:c.220+307_220+309delinsCAG ENSP00000415447.1:n.220+307_220+309delinsCAG
ENST00000470392.1:n.421+307_421+309delinsCAG
NM_001316772.1:c.1537+307_1537+309delinsCAG NP_001303701.1:n.1537+307_1537+309delinsCAG
NM_002047.2:c.1699+307_1699+309delinsCAG , LRG_243t1:c.1699+307_1699+309delinsCAG NP_002038.2:n.1699+307_1699+309delinsCAG
NM_002047.3:c.1699+307_1699+309delinsCAG NP_002038.2:n.1699+307_1699+309delinsCAG
XM_006715686.1:c.1330+307_1330+309delinsCAG XP_006715749.1:n.1330+307_1330+309delinsCAG
XM_006715686.2:c.1330+307_1330+309delinsCAG XP_006715749.1:n.1330+307_1330+309delinsCAG
NM_002047.4:c.1699+307_1699+309delinsCAG MANE Select NP_002038.2:n.1699+307_1699+309delinsCAG