Canonical Allele Identifier: CA312285
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 203590
dbSNP Id: rs796051914

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222677_7222679del , CM000679.2:g.7222677_7222679del GRCh38
NC_000017.10:g.7125996_7125998del , CM000679.1:g.7125996_7125998del GRCh37
NC_000017.9:g.7066720_7066722del NCBI36
NG_007975.1:g.7844_7846del
NG_008391.2:g.2372_2374del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.889_891del MANE Select ENSP00000349297.5:p.Glu297del
ENST00000322910.9:c.*844_*846del ENSP00000325395.5:n.*844_*846del
ENST00000350303.9:c.823_825del ENSP00000344152.5:p.Glu275del
ENST00000356839.9:c.889_891del ENSP00000349297.5:p.Glu297del
ENST00000543245.6:c.958_960del ENSP00000438689.2:p.Glu320del
ENST00000578824.5:n.38_40del
ENST00000581378.5:c.607_609del
ENST00000582379.1:n.273_275del
NM_000018.3:c.889_891del NP_000009.1:p.Glu297del
NM_001033859.2:c.823_825del NP_001029031.1:p.Glu275del
NM_001270447.1:c.958_960del NP_001257376.1:p.Glu320del
NM_001270448.1:c.661_663del NP_001257377.1:p.Glu221del
XM_006721516.2:c.889_891del XP_006721579.2:p.Glu297del
XM_011523829.1:c.889_891del XP_011522131.1:p.Glu297del
XM_011523830.1:c.889_891del XP_011522132.1:p.Glu297del
XR_934021.1:n.996_998del
XR_934022.1:n.996_998del
XR_934023.1:n.996_998del
XM_006721516.3:c.889_891del XP_006721579.2:p.Glu297del
XM_011523829.2:c.889_891del XP_011522131.1:p.Glu297del
XM_011523830.2:c.889_891del XP_011522132.1:p.Glu297del
XM_024450741.1:c.889_891del XP_024306509.1:p.Glu297del
XR_934021.2:n.948_950del
XR_934022.2:n.948_950del
XR_934023.2:n.948_950del
NM_000018.4:c.889_891del MANE Select NP_000009.1:p.Glu297del
NM_001033859.3:c.823_825del NP_001029031.1:p.Glu275del
NM_001270447.2:c.958_960del NP_001257376.1:p.Glu320del
NM_001270448.2:c.661_663del NP_001257377.1:p.Glu221del