Canonical Allele Identifier: CA2682251996
Gene: GARS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30631348del , CM000669.2:g.30631348del GRCh38
NC_000007.13:g.30670964del , CM000669.1:g.30670964del GRCh37
NC_000007.12:g.30637489del NCBI36
NG_007942.1:g.41784del , LRG_243:g.41784del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.1810-100del MANE Select ENSP00000373918.3:n.1810-100del
ENST00000444666.6:c.*231-100del ENSP00000415447.2:n.*231-100del
ENST00000465748.2:n.1291-100del
ENST00000470392.2:n.4578del
ENST00000485784.2:n.4567del
ENST00000496643.2:n.2805del
ENST00000674616.1:c.*1524-100del ENSP00000502408.1:n.*1524-100del
ENST00000674643.1:c.*910-100del ENSP00000501636.1:n.*910-100del
ENST00000674737.1:c.*1148-100del ENSP00000502464.1:n.*1148-100del
ENST00000674807.1:c.*83-100del ENSP00000502814.1:n.*83-100del
ENST00000674815.1:c.1441-100del ENSP00000502799.1:n.1441-100del
ENST00000674851.1:c.1441-100del ENSP00000502451.1:n.1441-100del
ENST00000674969.1:n.3683-100del
ENST00000675051.1:c.1609-100del ENSP00000502296.1:n.1609-100del
ENST00000675529.1:c.*1680-100del ENSP00000501655.1:n.*1680-100del
ENST00000675587.1:n.2642-100del
ENST00000675651.1:c.1810-100del ENSP00000502513.1:n.1810-100del
ENST00000675693.1:c.1642-100del ENSP00000502174.1:n.1642-100del
ENST00000675810.1:c.1708-100del ENSP00000502743.1:n.1708-100del
ENST00000675859.1:c.*83-899del ENSP00000502033.1:n.*83-899del
ENST00000675863.1:n.1818-100del
ENST00000675886.1:n.7850-100del
ENST00000676088.1:c.*1752-100del ENSP00000501884.1:n.*1752-100del
ENST00000676140.1:c.*755-100del ENSP00000502571.1:n.*755-100del
ENST00000676164.1:c.*1261-100del ENSP00000501986.1:n.*1261-100del
ENST00000676210.1:c.*1099-100del ENSP00000502373.1:n.*1099-100del
ENST00000676259.1:c.*1242-100del ENSP00000501980.1:n.*1242-100del
ENST00000676403.1:c.1810-899del ENSP00000502681.1:n.1810-899del
ENST00000389266.7:c.1810-100del ENSP00000373918.3:n.1810-100del
ENST00000444666.5:c.465-100del ENSP00000415447.1:n.465-100del
ENST00000465748.1:n.181-100del
ENST00000485784.1:n.200del
NM_001316772.1:c.1648-100del NP_001303701.1:n.1648-100del
NM_002047.2:c.1810-100del , LRG_243t1:c.1810-100del NP_002038.2:n.1810-100del
NM_002047.3:c.1810-100del NP_002038.2:n.1810-100del
XM_006715686.1:c.1441-100del XP_006715749.1:n.1441-100del
XM_006715686.2:c.1441-100del XP_006715749.1:n.1441-100del
NM_002047.4:c.1810-100del MANE Select NP_002038.2:n.1810-100del