Canonical Allele Identifier: CA2695201234
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2680234
ClinVar RCV Id: RCV003474406
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222704_7222705del , CM000679.2:g.7222704_7222705del GRCh38
NC_000017.10:g.7126023_7126024del , CM000679.1:g.7126023_7126024del GRCh37
NC_000017.9:g.7066747_7066748del NCBI36
NG_007975.1:g.7871_7872del
NG_008391.2:g.2347_2348del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.916_917del MANE Select ENSP00000349297.5:p.Asn306HisfsTer7
ENST00000322910.9:c.*871_*872del ENSP00000325395.5:n.*871_*872del
ENST00000350303.9:c.850_851del ENSP00000344152.5:p.Asn284HisfsTer7
ENST00000356839.9:c.916_917del ENSP00000349297.5:p.Asn306HisfsTer7
ENST00000543245.6:c.985_986del ENSP00000438689.2:p.Asn329HisfsTer7
ENST00000578824.5:n.65_66del
ENST00000581378.5:c.634_635del
ENST00000582379.1:n.300_301del
NM_000018.3:c.916_917del NP_000009.1:p.Asn306HisfsTer7
NM_001033859.2:c.850_851del NP_001029031.1:p.Asn284HisfsTer7
NM_001270447.1:c.985_986del NP_001257376.1:p.Asn329HisfsTer7
NM_001270448.1:c.688_689del NP_001257377.1:p.Asn230HisfsTer7
XM_006721516.2:c.916_917del XP_006721579.2:p.Asn306HisfsTer7
XM_011523829.1:c.916_917del XP_011522131.1:p.Asn306HisfsTer7
XM_011523830.1:c.916_917del XP_011522132.1:p.Asn306HisfsTer7
XR_934021.1:n.1023_1024del
XR_934022.1:n.1023_1024del
XR_934023.1:n.1023_1024del
XM_006721516.3:c.916_917del XP_006721579.2:p.Asn306HisfsTer7
XM_011523829.2:c.916_917del XP_011522131.1:p.Asn306HisfsTer7
XM_011523830.2:c.916_917del XP_011522132.1:p.Asn306HisfsTer7
XM_024450741.1:c.916_917del XP_024306509.1:p.Asn306HisfsTer7
XR_934021.2:n.975_976del
XR_934022.2:n.975_976del
XR_934023.2:n.975_976del
NM_000018.4:c.916_917del MANE Select NP_000009.1:p.Asn306HisfsTer7
NM_001033859.3:c.850_851del NP_001029031.1:p.Asn284HisfsTer7
NM_001270447.2:c.985_986del NP_001257376.1:p.Asn329HisfsTer7
NM_001270448.2:c.688_689del NP_001257377.1:p.Asn230HisfsTer7
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