Canonical Allele Identifier: CA2808366076
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222675dup , CM000679.2:g.7222675dup GRCh38
NC_000017.10:g.7125994dup , CM000679.1:g.7125994dup GRCh37
NC_000017.9:g.7066718dup NCBI36
NG_007975.1:g.7842dup
NG_008391.2:g.2380dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.887dup MANE Select ENSP00000349297.5:p.Glu297Ter
ENST00000322910.9:c.*842dup ENSP00000325395.5:n.*842dup
ENST00000350303.9:c.821dup ENSP00000344152.5:p.Glu275Ter
ENST00000356839.9:c.887dup ENSP00000349297.5:p.Glu297Ter
ENST00000543245.6:c.956dup ENSP00000438689.2:p.Glu320Ter
ENST00000578824.5:n.36dup
ENST00000581378.5:c.605dup
ENST00000582379.1:n.271dup
NM_000018.3:c.887dup NP_000009.1:p.Glu297Ter
NM_001033859.2:c.821dup NP_001029031.1:p.Glu275Ter
NM_001270447.1:c.956dup NP_001257376.1:p.Glu320Ter
NM_001270448.1:c.659dup NP_001257377.1:p.Glu221Ter
XM_006721516.2:c.887dup XP_006721579.2:p.Glu297Ter
XM_011523829.1:c.887dup XP_011522131.1:p.Glu297Ter
XM_011523830.1:c.887dup XP_011522132.1:p.Glu297Ter
XR_934021.1:n.994dup
XR_934022.1:n.994dup
XR_934023.1:n.994dup
XM_006721516.3:c.887dup XP_006721579.2:p.Glu297Ter
XM_011523829.2:c.887dup XP_011522131.1:p.Glu297Ter
XM_011523830.2:c.887dup XP_011522132.1:p.Glu297Ter
XM_024450741.1:c.887dup XP_024306509.1:p.Glu297Ter
XR_934021.2:n.946dup
XR_934022.2:n.946dup
XR_934023.2:n.946dup
NM_000018.4:c.887dup MANE Select NP_000009.1:p.Glu297Ter
NM_001033859.3:c.821dup NP_001029031.1:p.Glu275Ter
NM_001270447.2:c.956dup NP_001257376.1:p.Glu320Ter
NM_001270448.2:c.659dup NP_001257377.1:p.Glu221Ter