Canonical Allele Identifier: CA1139533039
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222288dup , CM000679.2:g.7222288dup GRCh38
NC_000017.10:g.7125607dup , CM000679.1:g.7125607dup GRCh37
NC_000017.9:g.7066331dup NCBI36
NG_007975.1:g.7455dup
NG_008391.2:g.2763dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.864dup MANE Select ENSP00000349297.5:p.Gly289ArgfsTer9
ENST00000322910.9:c.*819dup ENSP00000325395.5:n.*819dup
ENST00000350303.9:c.798dup ENSP00000344152.5:p.Gly267ArgfsTer9
ENST00000356839.9:c.864dup ENSP00000349297.5:p.Gly289ArgfsTer9
ENST00000543245.6:c.933dup ENSP00000438689.2:p.Gly312ArgfsTer9
ENST00000577191.5:n.1036dup
ENST00000581378.5:c.582dup
ENST00000582379.1:n.248dup
NM_000018.3:c.864dup NP_000009.1:p.Gly289ArgfsTer9
NM_001033859.2:c.798dup NP_001029031.1:p.Gly267ArgfsTer9
NM_001270447.1:c.933dup NP_001257376.1:p.Gly312ArgfsTer9
NM_001270448.1:c.636dup NP_001257377.1:p.Gly213ArgfsTer9
XM_006721516.2:c.864dup XP_006721579.2:p.Gly289ArgfsTer9
XM_011523829.1:c.864dup XP_011522131.1:p.Gly289ArgfsTer9
XM_011523830.1:c.864dup XP_011522132.1:p.Gly289ArgfsTer9
XR_934021.1:n.971dup
XR_934022.1:n.971dup
XR_934023.1:n.971dup
XM_006721516.3:c.864dup XP_006721579.2:p.Gly289ArgfsTer9
XM_011523829.2:c.864dup XP_011522131.1:p.Gly289ArgfsTer9
XM_011523830.2:c.864dup XP_011522132.1:p.Gly289ArgfsTer9
XM_024450741.1:c.864dup XP_024306509.1:p.Gly289ArgfsTer9
XR_934021.2:n.923dup
XR_934022.2:n.923dup
XR_934023.2:n.923dup
NM_000018.4:c.864dup MANE Select NP_000009.1:p.Gly289ArgfsTer9
NM_001033859.3:c.798dup NP_001029031.1:p.Gly267ArgfsTer9
NM_001270447.2:c.933dup NP_001257376.1:p.Gly312ArgfsTer9
NM_001270448.2:c.636dup NP_001257377.1:p.Gly213ArgfsTer9
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