Canonical Allele Identifier: CA2697557229
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2759976
ClinVar RCV Id: RCV003498585
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222301del , CM000679.2:g.7222301del GRCh38
NC_000017.10:g.7125620del , CM000679.1:g.7125620del GRCh37
NC_000017.9:g.7066344del NCBI36
NG_007975.1:g.7468del
NG_008391.2:g.2752del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.877del MANE Select ENSP00000349297.5:p.His293MetfsTer?
ENST00000322910.9:c.*832del ENSP00000325395.5:n.*832del
ENST00000350303.9:c.811del ENSP00000344152.5:p.His271MetfsTer?
ENST00000356839.9:c.877del ENSP00000349297.5:p.His293MetfsTer?
ENST00000543245.6:c.946del ENSP00000438689.2:p.His316MetfsTer?
ENST00000577191.5:n.1049del
ENST00000581378.5:c.595del
ENST00000582379.1:n.261del
NM_000018.3:c.877del NP_000009.1:p.His293MetfsTer?
NM_001033859.2:c.811del NP_001029031.1:p.His271MetfsTer?
NM_001270447.1:c.946del NP_001257376.1:p.His316MetfsTer?
NM_001270448.1:c.649del NP_001257377.1:p.His217MetfsTer?
XM_006721516.2:c.877del XP_006721579.2:p.His293MetfsTer?
XM_011523829.1:c.877del XP_011522131.1:p.His293MetfsTer?
XM_011523830.1:c.877del XP_011522132.1:p.His293MetfsTer?
XR_934021.1:n.984del
XR_934022.1:n.984del
XR_934023.1:n.984del
XM_006721516.3:c.877del XP_006721579.2:p.His293MetfsTer?
XM_011523829.2:c.877del XP_011522131.1:p.His293MetfsTer?
XM_011523830.2:c.877del XP_011522132.1:p.His293MetfsTer?
XM_024450741.1:c.877del XP_024306509.1:p.His293MetfsTer?
XR_934021.2:n.936del
XR_934022.2:n.936del
XR_934023.2:n.936del
NM_000018.4:c.877del MANE Select NP_000009.1:p.His293MetfsTer?
NM_001033859.3:c.811del NP_001029031.1:p.His271MetfsTer?
NM_001270447.2:c.946del NP_001257376.1:p.His316MetfsTer?
NM_001270448.2:c.649del NP_001257377.1:p.His217MetfsTer?
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