Canonical Allele Identifier: CA8338063
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932852
ClinVar RCV Id: RCV001200809
dbSNP Id: rs748077880

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223859del , CM000679.2:g.7223859del GRCh38
NC_000017.10:g.7127178del , CM000679.1:g.7127178del GRCh37
NC_000017.9:g.7067902del NCBI36
NG_007975.1:g.9026del
NG_008391.2:g.1197del
NG_033038.1:g.15691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1316del MANE Select ENSP00000349297.5:p.Gly439ValfsTer5
ENST00000322910.9:c.*1271del ENSP00000325395.5:n.*1271del
ENST00000350303.9:c.1250del ENSP00000344152.5:p.Gly417ValfsTer5
ENST00000356839.9:c.1316del ENSP00000349297.5:p.Gly439ValfsTer5
ENST00000542255.6:c.174del
ENST00000543245.6:c.1385del ENSP00000438689.2:p.Gly462ValfsTer5
ENST00000578711.1:n.355del
ENST00000579425.5:n.340del
ENST00000579546.1:c.153del
ENST00000583074.5:n.35del
ENST00000583850.5:n.91del
ENST00000583858.5:c.345del
ENST00000585203.6:n.523+1del
NM_000018.3:c.1316del NP_000009.1:p.Gly439ValfsTer5
NM_001033859.2:c.1250del NP_001029031.1:p.Gly417ValfsTer5
NM_001270447.1:c.1385del NP_001257376.1:p.Gly462ValfsTer5
NM_001270448.1:c.1088del NP_001257377.1:p.Gly363ValfsTer5
XM_006721516.2:c.1316del XP_006721579.2:p.Gly439ValfsTer5
XM_011523829.1:c.1316del XP_011522131.1:p.Gly439ValfsTer5
XM_011523830.1:c.1316del XP_011522132.1:p.Gly439ValfsTer5
XR_934021.1:n.1423del
XR_934022.1:n.1423del
XR_934023.1:n.1423del
XM_006721516.3:c.1316del XP_006721579.2:p.Gly439ValfsTer5
XM_011523829.2:c.1316del XP_011522131.1:p.Gly439ValfsTer5
XM_011523830.2:c.1316del XP_011522132.1:p.Gly439ValfsTer5
XM_024450741.1:c.1316del XP_024306509.1:p.Gly439ValfsTer5
XR_934021.2:n.1375del
XR_934022.2:n.1375del
XR_934023.2:n.1375del
NM_000018.4:c.1316del MANE Select NP_000009.1:p.Gly439ValfsTer5
NM_001033859.3:c.1250del NP_001029031.1:p.Gly417ValfsTer5
NM_001270447.2:c.1385del NP_001257376.1:p.Gly462ValfsTer5
NM_001270448.2:c.1088del NP_001257377.1:p.Gly363ValfsTer5