Canonical Allele Identifier: CA2245700882
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222004_7222005delinsAG , CM000679.2:g.7222004_7222005delinsAG GRCh38
NC_000017.10:g.7125323_7125324delinsAG , CM000679.1:g.7125323_7125324delinsAG GRCh37
NC_000017.9:g.7066047_7066048delinsAG NCBI36
NG_007975.1:g.7171_7172delinsAG
NG_008391.2:g.3046_3047delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.675_676delinsAG MANE Select ENSP00000349297.5:p.Ala225=
ENST00000322910.9:c.*630_*631delinsAG ENSP00000325395.5:n.*630_*631delinsAG
ENST00000350303.9:c.609_610delinsAG ENSP00000344152.5:p.Ala203=
ENST00000356839.9:c.675_676delinsAG ENSP00000349297.5:p.Ala225=
ENST00000543245.6:c.744_745delinsAG ENSP00000438689.2:p.Ala248=
ENST00000577191.5:n.752_753delinsAG
ENST00000577857.5:n.491_492delinsAG
ENST00000579286.5:n.856_857delinsAG
ENST00000580365.1:n.406_407delinsAG
ENST00000581378.5:c.393_394delinsAG
ENST00000582379.1:n.59_60delinsAG
ENST00000583760.1:n.457_458delinsAG
NM_000018.3:c.675_676delinsAG NP_000009.1:p.Ala225=
NM_001033859.2:c.609_610delinsAG NP_001029031.1:p.Ala203=
NM_001270447.1:c.744_745delinsAG NP_001257376.1:p.Ala248=
NM_001270448.1:c.447_448delinsAG NP_001257377.1:p.Ala149=
XM_006721516.2:c.675_676delinsAG XP_006721579.2:p.Ala225=
XM_011523829.1:c.675_676delinsAG XP_011522131.1:p.Ala225=
XM_011523830.1:c.675_676delinsAG XP_011522132.1:p.Ala225=
XR_934021.1:n.782_783delinsAG
XR_934022.1:n.782_783delinsAG
XR_934023.1:n.782_783delinsAG
XM_006721516.3:c.675_676delinsAG XP_006721579.2:p.Ala225=
XM_011523829.2:c.675_676delinsAG XP_011522131.1:p.Ala225=
XM_011523830.2:c.675_676delinsAG XP_011522132.1:p.Ala225=
XM_024450741.1:c.675_676delinsAG XP_024306509.1:p.Ala225=
XR_934021.2:n.734_735delinsAG
XR_934022.2:n.734_735delinsAG
XR_934023.2:n.734_735delinsAG
NM_000018.4:c.675_676delinsAG MANE Select NP_000009.1:p.Ala225=
NM_001033859.3:c.609_610delinsAG NP_001029031.1:p.Ala203=
NM_001270447.2:c.744_745delinsAG NP_001257376.1:p.Ala248=
NM_001270448.2:c.447_448delinsAG NP_001257377.1:p.Ala149=