Canonical Allele Identifier: CA916083527
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 844921
ClinVar RCV Id: RCV001047888
dbSNP Id: rs2071255080
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222017dup , CM000679.2:g.7222017dup GRCh38
NC_000017.10:g.7125336dup , CM000679.1:g.7125336dup GRCh37
NC_000017.9:g.7066060dup NCBI36
NG_007975.1:g.7184dup
NG_008391.2:g.3035dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.688dup MANE Select ENSP00000349297.5:p.Thr230AsnfsTer23
ENST00000322910.9:c.*643dup ENSP00000325395.5:n.*643dup
ENST00000350303.9:c.622dup ENSP00000344152.5:p.Thr208AsnfsTer23
ENST00000356839.9:c.688dup ENSP00000349297.5:p.Thr230AsnfsTer23
ENST00000543245.6:c.757dup ENSP00000438689.2:p.Thr253AsnfsTer23
ENST00000577191.5:n.765dup
ENST00000577857.5:n.504dup
ENST00000579286.5:n.869dup
ENST00000580365.1:n.419dup
ENST00000581378.5:c.406dup
ENST00000582379.1:n.72dup
ENST00000583760.1:n.470dup
NM_000018.3:c.688dup NP_000009.1:p.Thr230AsnfsTer23
NM_001033859.2:c.622dup NP_001029031.1:p.Thr208AsnfsTer23
NM_001270447.1:c.757dup NP_001257376.1:p.Thr253AsnfsTer23
NM_001270448.1:c.460dup NP_001257377.1:p.Thr154AsnfsTer23
XM_006721516.2:c.688dup XP_006721579.2:p.Thr230AsnfsTer23
XM_011523829.1:c.688dup XP_011522131.1:p.Thr230AsnfsTer23
XM_011523830.1:c.688dup XP_011522132.1:p.Thr230AsnfsTer23
XR_934021.1:n.795dup
XR_934022.1:n.795dup
XR_934023.1:n.795dup
XM_006721516.3:c.688dup XP_006721579.2:p.Thr230AsnfsTer23
XM_011523829.2:c.688dup XP_011522131.1:p.Thr230AsnfsTer23
XM_011523830.2:c.688dup XP_011522132.1:p.Thr230AsnfsTer23
XM_024450741.1:c.688dup XP_024306509.1:p.Thr230AsnfsTer23
XR_934021.2:n.747dup
XR_934022.2:n.747dup
XR_934023.2:n.747dup
NM_000018.4:c.688dup MANE Select NP_000009.1:p.Thr230AsnfsTer23
NM_001033859.3:c.622dup NP_001029031.1:p.Thr208AsnfsTer23
NM_001270447.2:c.757dup NP_001257376.1:p.Thr253AsnfsTer23
NM_001270448.2:c.460dup NP_001257377.1:p.Thr154AsnfsTer23
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