Canonical Allele Identifier: CA8337802
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 581080
ClinVar RCV Id: RCV000704804
dbSNP Id: rs746860401

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221981_7222011dup , CM000679.2:g.7221981_7222011dup GRCh38
NC_000017.10:g.7125300_7125330dup , CM000679.1:g.7125300_7125330dup GRCh37
NC_000017.9:g.7066024_7066054dup NCBI36
NG_007975.1:g.7148_7178dup
NG_008391.2:g.3040_3070dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.652_682dup MANE Select ENSP00000349297.5:p.Ile228ArgfsTer35
ENST00000322910.9:c.*607_*637dup ENSP00000325395.5:n.*607_*637dup
ENST00000350303.9:c.586_616dup ENSP00000344152.5:p.Ile206ArgfsTer35
ENST00000356839.9:c.652_682dup ENSP00000349297.5:p.Ile228ArgfsTer35
ENST00000543245.6:c.721_751dup ENSP00000438689.2:p.Ile251ArgfsTer35
ENST00000577191.5:n.729_759dup
ENST00000577857.5:n.468_498dup
ENST00000579286.5:n.833_863dup
ENST00000580365.1:n.383_413dup
ENST00000581378.5:c.370_400dup
ENST00000582379.1:n.36_66dup
ENST00000583760.1:n.434_464dup
NM_000018.3:c.652_682dup NP_000009.1:p.Ile228ArgfsTer35
NM_001033859.2:c.586_616dup NP_001029031.1:p.Ile206ArgfsTer35
NM_001270447.1:c.721_751dup NP_001257376.1:p.Ile251ArgfsTer35
NM_001270448.1:c.424_454dup NP_001257377.1:p.Ile152ArgfsTer35
XM_006721516.2:c.652_682dup XP_006721579.2:p.Ile228ArgfsTer35
XM_011523829.1:c.652_682dup XP_011522131.1:p.Ile228ArgfsTer35
XM_011523830.1:c.652_682dup XP_011522132.1:p.Ile228ArgfsTer35
XR_934021.1:n.759_789dup
XR_934022.1:n.759_789dup
XR_934023.1:n.759_789dup
XM_006721516.3:c.652_682dup XP_006721579.2:p.Ile228ArgfsTer35
XM_011523829.2:c.652_682dup XP_011522131.1:p.Ile228ArgfsTer35
XM_011523830.2:c.652_682dup XP_011522132.1:p.Ile228ArgfsTer35
XM_024450741.1:c.652_682dup XP_024306509.1:p.Ile228ArgfsTer35
XR_934021.2:n.711_741dup
XR_934022.2:n.711_741dup
XR_934023.2:n.711_741dup
NM_000018.4:c.652_682dup MANE Select NP_000009.1:p.Ile228ArgfsTer35
NM_001033859.3:c.586_616dup NP_001029031.1:p.Ile206ArgfsTer35
NM_001270447.2:c.721_751dup NP_001257376.1:p.Ile251ArgfsTer35
NM_001270448.2:c.424_454dup NP_001257377.1:p.Ile152ArgfsTer35