Canonical Allele Identifier: CA2578858552
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30609528_30609533del , CM000669.2:g.30609528_30609533del GRCh38
NC_000007.13:g.30649144_30649149del , CM000669.1:g.30649144_30649149del GRCh37
NC_000007.12:g.30615669_30615674del NCBI36
NG_007942.1:g.19964_19969del , LRG_243:g.19964_19969del

Transcript Alleles

HGVS Amino-acid change
ENST00000389266.8:c.736-57_736-52del MANE Select ENSP00000373918.3:n.736-57_736-52del
ENST00000444666.6:c.736-57_736-52del ENSP00000415447.2:n.736-57_736-52del
ENST00000470392.2:n.826-57_826-52del
ENST00000478124.6:n.799-57_799-52del
ENST00000485784.2:n.815-57_815-52del
ENST00000674616.1:c.*450-57_*450-52del ENSP00000502408.1:n.*450-57_*450-52del
ENST00000674643.1:c.736-57_736-52del ENSP00000501636.1:n.736-57_736-52del
ENST00000674734.1:n.1232-57_1232-52del
ENST00000674737.1:c.*74-57_*74-52del ENSP00000502464.1:n.*74-57_*74-52del
ENST00000674807.1:c.736-57_736-52del ENSP00000502814.1:n.736-57_736-52del
ENST00000674815.1:c.367-57_367-52del ENSP00000502799.1:n.367-57_367-52del
ENST00000674851.1:c.367-57_367-52del ENSP00000502451.1:n.367-57_367-52del
ENST00000674969.1:n.2609-57_2609-52del
ENST00000675051.1:c.535-57_535-52del ENSP00000502296.1:n.535-57_535-52del
ENST00000675529.1:c.*606-57_*606-52del ENSP00000501655.1:n.*606-57_*606-52del
ENST00000675587.1:n.752-57_752-52del
ENST00000675651.1:c.736-57_736-52del ENSP00000502513.1:n.736-57_736-52del
ENST00000675693.1:c.568-57_568-52del ENSP00000502174.1:n.568-57_568-52del
ENST00000675810.1:c.634-57_634-52del ENSP00000502743.1:n.634-57_634-52del
ENST00000675859.1:c.736-57_736-52del ENSP00000502033.1:n.736-57_736-52del
ENST00000675863.1:n.744-57_744-52del
ENST00000675886.1:n.6719_6724del
ENST00000676088.1:c.*678-57_*678-52del ENSP00000501884.1:n.*678-57_*678-52del
ENST00000676140.1:c.736-57_736-52del ENSP00000502571.1:n.736-57_736-52del
ENST00000676164.1:c.*187-57_*187-52del ENSP00000501986.1:n.*187-57_*187-52del
ENST00000676210.1:c.*25-57_*25-52del ENSP00000502373.1:n.*25-57_*25-52del
ENST00000676259.1:c.*168-57_*168-52del ENSP00000501980.1:n.*168-57_*168-52del
ENST00000676403.1:c.736-57_736-52del ENSP00000502681.1:n.736-57_736-52del
ENST00000389266.7:c.736-57_736-52del ENSP00000373918.3:n.736-57_736-52del
ENST00000478124.5:n.774-57_774-52del
NM_001316772.1:c.574-57_574-52del NP_001303701.1:n.574-57_574-52del
NM_002047.2:c.736-57_736-52del , LRG_243t1:c.736-57_736-52del NP_002038.2:n.736-57_736-52del
NM_002047.3:c.736-57_736-52del NP_002038.2:n.736-57_736-52del
XM_006715686.1:c.367-57_367-52del XP_006715749.1:n.367-57_367-52del
XM_006715686.2:c.367-57_367-52del XP_006715749.1:n.367-57_367-52del
NM_002047.4:c.736-57_736-52del MANE Select NP_002038.2:n.736-57_736-52del