Canonical Allele Identifier: CA2695201237
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2680125
ClinVar RCV Id: RCV003465163

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224968del , CM000679.2:g.7224968del GRCh38
NC_000017.10:g.7128287del , CM000679.1:g.7128287del GRCh37
NC_000017.9:g.7069011del NCBI36
NG_007975.1:g.10135del
NG_008391.2:g.84del
NG_033038.1:g.14578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1839del MANE Select ENSP00000349297.5:p.Ile614SerfsTer?
ENST00000322910.9:c.*1794del ENSP00000325395.5:n.*1794del
ENST00000350303.9:c.1773del ENSP00000344152.5:p.Ile592SerfsTer?
ENST00000356839.9:c.1839del ENSP00000349297.5:p.Ile614SerfsTer?
ENST00000542255.6:c.718del
ENST00000543245.6:c.1908del ENSP00000438689.2:p.Ile637SerfsTer?
ENST00000578033.1:n.264del
ENST00000578319.5:n.420del
ENST00000578711.1:n.1464del
ENST00000578809.5:n.411del
ENST00000579425.5:n.955del
ENST00000579546.1:c.574del
ENST00000583848.5:c.205del ENSP00000466487.1:n.205del
ENST00000583850.5:n.610del
ENST00000583858.5:c.770del
NM_000018.3:c.1839del NP_000009.1:p.Ile614SerfsTer?
NM_001033859.2:c.1773del NP_001029031.1:p.Ile592SerfsTer?
NM_001270447.1:c.1908del NP_001257376.1:p.Ile637SerfsTer?
NM_001270448.1:c.1611del NP_001257377.1:p.Ile538SerfsTer?
XM_006721516.2:c.1860del XP_006721579.2:p.Ile621SerfsTer?
XM_011523829.1:c.1758del XP_011522131.1:p.Ile587SerfsTer?
XM_011523830.1:c.1737del XP_011522132.1:p.Ile580SerfsTer?
XR_934021.1:n.1942del
XR_934022.1:n.1848del
XR_934023.1:n.1869del
XM_006721516.3:c.1860del XP_006721579.2:p.Ile621SerfsTer?
XM_011523829.2:c.1758del XP_011522131.1:p.Ile587SerfsTer?
XM_011523830.2:c.1737del XP_011522132.1:p.Ile580SerfsTer?
XM_024450741.1:c.1827del XP_024306509.1:p.Ile610SerfsTer?
XR_934021.2:n.1894del
XR_934022.2:n.1800del
XR_934023.2:n.1821del
NM_000018.4:c.1839del MANE Select NP_000009.1:p.Ile614SerfsTer?
NM_001033859.3:c.1773del NP_001029031.1:p.Ile592SerfsTer?
NM_001270447.2:c.1908del NP_001257376.1:p.Ile637SerfsTer?
NM_001270448.2:c.1611del NP_001257377.1:p.Ile538SerfsTer?