Canonical Allele Identifier: CA2682249249
Gene: GARS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30609574_30609575del , CM000669.2:g.30609574_30609575del GRCh38
NC_000007.13:g.30649190_30649191del , CM000669.1:g.30649190_30649191del GRCh37
NC_000007.12:g.30615715_30615716del NCBI36
NG_007942.1:g.20010_20011del , LRG_243:g.20010_20011del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389266.8:c.736-11_736-10del MANE Select ENSP00000373918.3:n.736-11_736-10del
ENST00000444666.6:c.736-11_736-10del ENSP00000415447.2:n.736-11_736-10del
ENST00000470392.2:n.826-11_826-10del
ENST00000478124.6:n.799-11_799-10del
ENST00000485784.2:n.815-11_815-10del
ENST00000674616.1:c.*450-11_*450-10del ENSP00000502408.1:n.*450-11_*450-10del
ENST00000674643.1:c.736-11_736-10del ENSP00000501636.1:n.736-11_736-10del
ENST00000674734.1:n.1232-11_1232-10del
ENST00000674737.1:c.*74-11_*74-10del ENSP00000502464.1:n.*74-11_*74-10del
ENST00000674807.1:c.736-11_736-10del ENSP00000502814.1:n.736-11_736-10del
ENST00000674815.1:c.367-11_367-10del ENSP00000502799.1:n.367-11_367-10del
ENST00000674851.1:c.367-11_367-10del ENSP00000502451.1:n.367-11_367-10del
ENST00000674969.1:n.2609-11_2609-10del
ENST00000675051.1:c.535-11_535-10del ENSP00000502296.1:n.535-11_535-10del
ENST00000675529.1:c.*606-11_*606-10del ENSP00000501655.1:n.*606-11_*606-10del
ENST00000675587.1:n.752-11_752-10del
ENST00000675651.1:c.736-11_736-10del ENSP00000502513.1:n.736-11_736-10del
ENST00000675693.1:c.568-11_568-10del ENSP00000502174.1:n.568-11_568-10del
ENST00000675810.1:c.634-11_634-10del ENSP00000502743.1:n.634-11_634-10del
ENST00000675859.1:c.736-11_736-10del ENSP00000502033.1:n.736-11_736-10del
ENST00000675863.1:n.744-11_744-10del
ENST00000675886.1:n.6765_6766del
ENST00000676088.1:c.*678-11_*678-10del ENSP00000501884.1:n.*678-11_*678-10del
ENST00000676140.1:c.736-11_736-10del ENSP00000502571.1:n.736-11_736-10del
ENST00000676164.1:c.*187-11_*187-10del ENSP00000501986.1:n.*187-11_*187-10del
ENST00000676210.1:c.*25-11_*25-10del ENSP00000502373.1:n.*25-11_*25-10del
ENST00000676259.1:c.*168-11_*168-10del ENSP00000501980.1:n.*168-11_*168-10del
ENST00000676403.1:c.736-11_736-10del ENSP00000502681.1:n.736-11_736-10del
ENST00000389266.7:c.736-11_736-10del ENSP00000373918.3:n.736-11_736-10del
ENST00000478124.5:n.774-11_774-10del
NM_001316772.1:c.574-11_574-10del NP_001303701.1:n.574-11_574-10del
NM_002047.2:c.736-11_736-10del , LRG_243t1:c.736-11_736-10del NP_002038.2:n.736-11_736-10del
NM_002047.3:c.736-11_736-10del NP_002038.2:n.736-11_736-10del
XM_006715686.1:c.367-11_367-10del XP_006715749.1:n.367-11_367-10del
XM_006715686.2:c.367-11_367-10del XP_006715749.1:n.367-11_367-10del
NM_002047.4:c.736-11_736-10del MANE Select NP_002038.2:n.736-11_736-10del