Canonical Allele Identifier: CA323211
Gene: LARS1 HGNC NCBI

Linked Data

dbSNP Id: rs863224048

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146177592_146177593del , CM000667.2:g.146177592_146177593del GRCh38
NC_000005.9:g.145557155_145557156del , CM000667.1:g.145557155_145557156del GRCh37
NC_000005.8:g.145537348_145537349del NCBI36
NG_042294.1:g.10144_10145del

Transcript Alleles

HGVS Amino-acid change
ENST00000394434.7:c.84_85del MANE Select ENSP00000377954.2:p.Arg28SerfsTer3
ENST00000505223.6:n.241_242del
ENST00000512412.2:n.261_262del
ENST00000618084.2:n.251_252del
ENST00000674158.1:c.-79_-78del ENSP00000501474.1:n.-79_-78del
ENST00000674170.1:c.84_85del ENSP00000501381.1:p.Arg28SerfsTer3
ENST00000674174.1:c.-79_-78del ENSP00000501434.1:n.-79_-78del
ENST00000674191.1:c.-79_-78del ENSP00000501478.1:n.-79_-78del
ENST00000674218.1:n.261_262del
ENST00000674270.1:c.84_85del ENSP00000501365.1:p.Arg28SerfsTer3
ENST00000674277.1:c.-79_-78del ENSP00000501510.1:n.-79_-78del
ENST00000674290.1:c.84_85del ENSP00000501435.1:p.Arg28SerfsTer3
ENST00000674309.1:c.84_85del ENSP00000501400.1:p.Arg28SerfsTer3
ENST00000674310.1:c.84_85del ENSP00000501486.1:p.Arg28SerfsTer3
ENST00000674383.1:n.208_209del
ENST00000674398.1:c.84_85del ENSP00000501476.1:p.Arg28SerfsTer3
ENST00000674412.1:n.104_105del
ENST00000674417.1:n.254_255del
ENST00000674447.1:c.84_85del ENSP00000501376.1:p.Arg28SerfsTer3
ENST00000674450.1:n.241_242del
ENST00000674467.1:c.84_85del ENSP00000501351.1:p.Arg28SerfsTer3
ENST00000674479.1:n.261_262del
ENST00000274562.13:c.-431_-430del ENSP00000274562.10:n.-431_-430del
ENST00000394434.6:c.84_85del ENSP00000377954.2:p.Arg28SerfsTer3
ENST00000503654.5:n.287_288del
ENST00000505223.5:n.241_242del
ENST00000506436.1:n.414_415del
ENST00000510191.5:c.-37-4814_-37-4813del ENSP00000426005.1:n.-37-4814_-37-4813del
ENST00000511505.5:n.240_241del
ENST00000618084.1:c.84_85del ENSP00000481381.1:p.Arg28SerfsTer3
NM_020117.9:c.84_85del NP_064502.9:p.Arg28SerfsTer3
XM_011537655.1:c.84_85del XP_011535957.1:p.Arg28SerfsTer3
XM_011537656.1:c.-79_-78del XP_011535958.1:n.-79_-78del
XM_011537657.1:c.84_85del XP_011535959.1:p.Arg28SerfsTer3
NM_001317964.1:c.84_85del NP_001304893.1:p.Arg28SerfsTer3
NM_001317965.1:c.-37-4814_-37-4813del NP_001304894.1:n.-37-4814_-37-4813del
NM_016460.3:c.84_85del NP_057544.2:p.Arg28SerfsTer3
NM_020117.10:c.84_85del NP_064502.9:p.Arg28SerfsTer3
XM_011537656.3:c.-79_-78del XP_011535958.1:n.-79_-78del
NM_020117.11:c.84_85del MANE Select NP_064502.9:p.Arg28SerfsTer3
NM_001317964.2:c.84_85del NP_001304893.1:p.Arg28SerfsTer3
NM_001317965.2:c.-37-4814_-37-4813del NP_001304894.1:n.-37-4814_-37-4813del
NM_016460.4:c.84_85del NP_057544.2:p.Arg28SerfsTer3