Canonical Allele Identifier: CA3489478
Community Standard Title: NM_020117.11(LARS1):c.1878-29_1878-28dup
Gene: LARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146143125_146143126dup , CM000667.2:g.146143125_146143126dup GRCh38
NC_000005.9:g.145522688_145522689dup , CM000667.1:g.145522688_145522689dup GRCh37
NC_000005.8:g.145502881_145502882dup NCBI36
NG_042294.1:g.44619_44620dup

Transcript Alleles

HGVS Amino-acid Change
NM_020117.11:c.1878-29_1878-28dup MANE Select NP_064502.9:n.1878-29_1878-28dup
ENST00000394434.7:c.1878-29_1878-28dup MANE Select ENSP00000377954.2:n.1878-29_1878-28dup
NM_001317964.1:c.1740-29_1740-28dup NP_001304893.1:n.1740-29_1740-28dup
NM_001317964.2:c.1740-29_1740-28dup NP_001304893.1:n.1740-29_1740-28dup
NM_001317965.1:c.1716-29_1716-28dup NP_001304894.1:n.1716-29_1716-28dup
NM_001317965.2:c.1716-29_1716-28dup NP_001304894.1:n.1716-29_1716-28dup
NM_016460.3:c.1797-29_1797-28dup NP_057544.2:n.1797-29_1797-28dup
NM_016460.4:c.1797-29_1797-28dup NP_057544.2:n.1797-29_1797-28dup
NM_020117.10:c.1878-29_1878-28dup NP_064502.9:n.1878-29_1878-28dup
NM_020117.9:c.1878-29_1878-28dup NP_064502.9:n.1878-29_1878-28dup
ENST00000274562.13:c.-102-123_-102-122dup ENSP00000274562.10:n.-102-123_-102-122dup
ENST00000394434.6:c.1878-29_1878-28dup ENSP00000377954.2:n.1878-29_1878-28dup
ENST00000504323.5:n.483-29_483-28dup
ENST00000504323.6:n.2308-29_2308-28dup
ENST00000506231.6:n.2112-29_2112-28dup
ENST00000510191.5:c.1716-29_1716-28dup ENSP00000426005.1:n.1716-29_1716-28dup
ENST00000512412.1:n.128-29_128-28dup
ENST00000512412.2:n.2055-29_2055-28dup
ENST00000514104.5:n.207-29_207-28dup
ENST00000674158.1:c.1497-29_1497-28dup ENSP00000501474.1:n.1497-29_1497-28dup
ENST00000674170.1:c.*316-29_*316-28dup ENSP00000501381.1:n.*316-29_*316-28dup
ENST00000674174.1:c.1716-29_1716-28dup ENSP00000501434.1:n.1716-29_1716-28dup
ENST00000674181.1:c.128-29_128-28dup
ENST00000674191.1:c.1422-29_1422-28dup ENSP00000501478.1:n.1422-29_1422-28dup
ENST00000674218.1:n.2055-29_2055-28dup
ENST00000674270.1:c.1740-29_1740-28dup ENSP00000501365.1:n.1740-29_1740-28dup
ENST00000674277.1:c.1716-29_1716-28dup ENSP00000501510.1:n.1716-29_1716-28dup
ENST00000674290.1:c.1842-29_1842-28dup ENSP00000501435.1:n.1842-29_1842-28dup
ENST00000674309.1:c.1878-29_1878-28dup ENSP00000501400.1:n.1878-29_1878-28dup
ENST00000674310.1:c.1878-29_1878-28dup ENSP00000501486.1:n.1878-29_1878-28dup
ENST00000674383.1:n.1921-29_1921-28dup
ENST00000674398.1:c.1878-29_1878-28dup ENSP00000501476.1:n.1878-29_1878-28dup
ENST00000674447.1:c.1797-29_1797-28dup ENSP00000501376.1:n.1797-29_1797-28dup
ENST00000674467.1:c.1878-29_1878-28dup ENSP00000501351.1:n.1878-29_1878-28dup
ENST00000674471.1:n.2146-29_2146-28dup
ENST00000674479.1:n.2055-29_2055-28dup
XM_011537655.1:c.1740-29_1740-28dup XP_011535957.1:n.1740-29_1740-28dup
XM_011537656.1:c.1716-29_1716-28dup XP_011535958.1:n.1716-29_1716-28dup
XM_011537656.3:c.1716-29_1716-28dup XP_011535958.1:n.1716-29_1716-28dup
XM_011537657.1:c.1877+299_1877+300dup XP_011535959.1:n.1877+299_1877+300dup