Canonical Allele Identifier: CA1624923841

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44302974_44302975delinsGC , CM000668.2:g.44302974_44302975delinsGC GRCh38
NC_000006.11:g.44270711_44270712delinsGC , CM000668.1:g.44270711_44270712delinsGC GRCh37
NC_000006.10:g.44378689_44378690delinsGC NCBI36
NG_031952.1:g.15352_15353delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000244571.5:c.2256-65_2256-64delinsGC (AARS2) MANE Select ENSP00000244571.4:n.2256-65_2256-64delinsGC
ENST00000244571.4:c.2256-65_2256-64delinsGC (AARS2) ENSP00000244571.4:n.2256-65_2256-64delinsGC
ENST00000438774.2:c.577-3969_577-3968delinsGC (TMEM151B) ENSP00000409337.2:n.577-3969_577-3968delinsGC
ENST00000505802.1:c.314-3969_314-3968delinsGC
NM_020745.3:c.2256-65_2256-64delinsGC (AARS2) NP_065796.1:n.2256-65_2256-64delinsGC
XM_005249245.2:c.1965-65_1965-64delinsGC (AARS2) XP_005249302.1:n.1965-65_1965-64delinsGC
XM_011514764.1:c.2256-65_2256-64delinsGC (AARS2) XP_011513066.1:n.2256-65_2256-64delinsGC
XR_241907.2:n.2181-65_2181-64delinsGC (AARS2)
XM_005249245.3:c.1965-65_1965-64delinsGC (AARS2) XP_005249302.1:n.1965-65_1965-64delinsGC
XM_011514764.2:c.2256-65_2256-64delinsGC (AARS2) XP_011513066.1:n.2256-65_2256-64delinsGC
XM_017011112.1:c.966-65_966-64delinsGC (AARS2) XP_016866601.1:n.966-65_966-64delinsGC
NM_020745.4:c.2256-65_2256-64delinsGC (AARS2) MANE Select NP_065796.2:n.2256-65_2256-64delinsGC
NM_001318876.2:c.946-138916_946-138915delinsGC (POLR1C) NP_001305805.1:n.946-138916_946-138915delinsGC