Canonical Allele Identifier: CA2245701484
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932846
ClinVar RCV Id: RCV001200802
dbSNP Id: rs2071269046

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222280_7222281del , CM000679.2:g.7222280_7222281del GRCh38
NC_000017.10:g.7125599_7125600del , CM000679.1:g.7125599_7125600del GRCh37
NC_000017.9:g.7066323_7066324del NCBI36
NG_007975.1:g.7447_7448del
NG_008391.2:g.2773_2774del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.856_857del MANE Select ENSP00000349297.5:p.Arg286GlyfsTer11
ENST00000322910.9:c.*811_*812del ENSP00000325395.5:n.*811_*812del
ENST00000350303.9:c.790_791del ENSP00000344152.5:p.Arg264GlyfsTer11
ENST00000356839.9:c.856_857del ENSP00000349297.5:p.Arg286GlyfsTer11
ENST00000543245.6:c.925_926del ENSP00000438689.2:p.Arg309GlyfsTer11
ENST00000577191.5:n.1028_1029del
ENST00000581378.5:c.574_575del
ENST00000582379.1:n.240_241del
NM_000018.3:c.856_857del NP_000009.1:p.Arg286GlyfsTer11
NM_001033859.2:c.790_791del NP_001029031.1:p.Arg264GlyfsTer11
NM_001270447.1:c.925_926del NP_001257376.1:p.Arg309GlyfsTer11
NM_001270448.1:c.628_629del NP_001257377.1:p.Arg210GlyfsTer11
XM_006721516.2:c.856_857del XP_006721579.2:p.Arg286GlyfsTer11
XM_011523829.1:c.856_857del XP_011522131.1:p.Arg286GlyfsTer11
XM_011523830.1:c.856_857del XP_011522132.1:p.Arg286GlyfsTer11
XR_934021.1:n.963_964del
XR_934022.1:n.963_964del
XR_934023.1:n.963_964del
XM_006721516.3:c.856_857del XP_006721579.2:p.Arg286GlyfsTer11
XM_011523829.2:c.856_857del XP_011522131.1:p.Arg286GlyfsTer11
XM_011523830.2:c.856_857del XP_011522132.1:p.Arg286GlyfsTer11
XM_024450741.1:c.856_857del XP_024306509.1:p.Arg286GlyfsTer11
XR_934021.2:n.915_916del
XR_934022.2:n.915_916del
XR_934023.2:n.915_916del
NM_000018.4:c.856_857del MANE Select NP_000009.1:p.Arg286GlyfsTer11
NM_001033859.3:c.790_791del NP_001029031.1:p.Arg264GlyfsTer11
NM_001270447.2:c.925_926del NP_001257376.1:p.Arg309GlyfsTer11
NM_001270448.2:c.628_629del NP_001257377.1:p.Arg210GlyfsTer11