Canonical Allele Identifier: CA2695224256
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223858delinsAC , CM000679.2:g.7223858delinsAC GRCh38
NC_000017.10:g.7127177delinsAC , CM000679.1:g.7127177delinsAC GRCh37
NC_000017.9:g.7067901delinsAC NCBI36
NG_007975.1:g.9025delinsAC
NG_008391.2:g.1193delinsGT
NG_033038.1:g.15687delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1315delinsAC MANE Select ENSP00000349297.5:p.Gly439ThrfsTer24
ENST00000322910.9:c.*1270delinsAC ENSP00000325395.5:n.*1270delinsAC
ENST00000350303.9:c.1249delinsAC ENSP00000344152.5:p.Gly417ThrfsTer24
ENST00000356839.9:c.1315delinsAC ENSP00000349297.5:p.Gly439ThrfsTer24
ENST00000542255.6:c.173delinsAC
ENST00000543245.6:c.1384delinsAC ENSP00000438689.2:p.Gly462ThrfsTer24
ENST00000578711.1:n.354delinsAC
ENST00000579425.5:n.339delinsAC
ENST00000579546.1:c.152delinsAC
ENST00000583074.5:n.34delinsAC
ENST00000583850.5:n.90delinsAC
ENST00000583858.5:c.344delinsAC
ENST00000585203.6:n.523delinsAC
NM_000018.3:c.1315delinsAC NP_000009.1:p.Gly439ThrfsTer24
NM_001033859.2:c.1249delinsAC NP_001029031.1:p.Gly417ThrfsTer24
NM_001270447.1:c.1384delinsAC NP_001257376.1:p.Gly462ThrfsTer24
NM_001270448.1:c.1087delinsAC NP_001257377.1:p.Gly363ThrfsTer24
XM_006721516.2:c.1315delinsAC XP_006721579.2:p.Gly439ThrfsTer24
XM_011523829.1:c.1315delinsAC XP_011522131.1:p.Gly439ThrfsTer24
XM_011523830.1:c.1315delinsAC XP_011522132.1:p.Gly439ThrfsTer24
XR_934021.1:n.1422delinsAC
XR_934022.1:n.1422delinsAC
XR_934023.1:n.1422delinsAC
XM_006721516.3:c.1315delinsAC XP_006721579.2:p.Gly439ThrfsTer24
XM_011523829.2:c.1315delinsAC XP_011522131.1:p.Gly439ThrfsTer24
XM_011523830.2:c.1315delinsAC XP_011522132.1:p.Gly439ThrfsTer24
XM_024450741.1:c.1315delinsAC XP_024306509.1:p.Gly439ThrfsTer24
XR_934021.2:n.1374delinsAC
XR_934022.2:n.1374delinsAC
XR_934023.2:n.1374delinsAC
NM_000018.4:c.1315delinsAC MANE Select NP_000009.1:p.Gly439ThrfsTer24
NM_001033859.3:c.1249delinsAC NP_001029031.1:p.Gly417ThrfsTer24
NM_001270447.2:c.1384delinsAC NP_001257376.1:p.Gly462ThrfsTer24
NM_001270448.2:c.1087delinsAC NP_001257377.1:p.Gly363ThrfsTer24