Canonical Allele Identifier: CA1139665152
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 938242
ClinVar RCV Id: RCV001207427
dbSNP Id: rs2071356603

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224044del , CM000679.2:g.7224044del GRCh38
NC_000017.10:g.7127363del , CM000679.1:g.7127363del GRCh37
NC_000017.9:g.7068087del NCBI36
NG_007975.1:g.9211del
NG_008391.2:g.1007del
NG_033038.1:g.15501del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1409del MANE Select ENSP00000349297.5:p.Leu470ArgfsTer22
ENST00000322910.9:c.*1364del ENSP00000325395.5:n.*1364del
ENST00000350303.9:c.1343del ENSP00000344152.5:p.Leu448ArgfsTer22
ENST00000356839.9:c.1409del ENSP00000349297.5:p.Leu470ArgfsTer22
ENST00000542255.6:c.267del
ENST00000543245.6:c.1478del ENSP00000438689.2:p.Leu493ArgfsTer22
ENST00000578711.1:n.540del
ENST00000579425.5:n.525del
ENST00000579546.1:c.246del
ENST00000579894.5:n.120del
ENST00000583074.5:n.128del
ENST00000583850.5:n.184del
ENST00000583858.5:c.438del
ENST00000585203.6:n.600del
NM_000018.3:c.1409del NP_000009.1:p.Leu470ArgfsTer22
NM_001033859.2:c.1343del NP_001029031.1:p.Leu448ArgfsTer22
NM_001270447.1:c.1478del NP_001257376.1:p.Leu493ArgfsTer22
NM_001270448.1:c.1181del NP_001257377.1:p.Leu394ArgfsTer22
XM_006721516.2:c.1409del XP_006721579.2:p.Leu470ArgfsTer22
XM_011523829.1:c.1409del XP_011522131.1:p.Leu470ArgfsTer?
XM_011523830.1:c.1409del XP_011522132.1:p.Leu470ArgfsTer?
XR_934021.1:n.1516del
XR_934022.1:n.1516del
XR_934023.1:n.1516del
XM_006721516.3:c.1409del XP_006721579.2:p.Leu470ArgfsTer22
XM_011523829.2:c.1409del XP_011522131.1:p.Leu470ArgfsTer?
XM_011523830.2:c.1409del XP_011522132.1:p.Leu470ArgfsTer?
XM_024450741.1:c.1409del XP_024306509.1:p.Leu470ArgfsTer?
XR_934021.2:n.1468del
XR_934022.2:n.1468del
XR_934023.2:n.1468del
NM_000018.4:c.1409del MANE Select NP_000009.1:p.Leu470ArgfsTer22
NM_001033859.3:c.1343del NP_001029031.1:p.Leu448ArgfsTer22
NM_001270447.2:c.1478del NP_001257376.1:p.Leu493ArgfsTer22
NM_001270448.2:c.1181del NP_001257377.1:p.Leu394ArgfsTer22