Canonical Allele Identifier: CA1139665141
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932877
ClinVar RCV Id: RCV001200841
dbSNP Id: rs2071254166
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222005del , CM000679.2:g.7222005del GRCh38
NC_000017.10:g.7125324del , CM000679.1:g.7125324del GRCh37
NC_000017.9:g.7066048del NCBI36
NG_007975.1:g.7172del
NG_008391.2:g.3046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.676del MANE Select ENSP00000349297.5:p.Ala226ProfsTer30
ENST00000322910.9:c.*631del ENSP00000325395.5:n.*631del
ENST00000350303.9:c.610del ENSP00000344152.5:p.Ala204ProfsTer30
ENST00000356839.9:c.676del ENSP00000349297.5:p.Ala226ProfsTer30
ENST00000543245.6:c.745del ENSP00000438689.2:p.Ala249ProfsTer30
ENST00000577191.5:n.753del
ENST00000577857.5:n.492del
ENST00000579286.5:n.857del
ENST00000580365.1:n.407del
ENST00000581378.5:c.394del
ENST00000582379.1:n.60del
ENST00000583760.1:n.458del
NM_000018.3:c.676del NP_000009.1:p.Ala226ProfsTer30
NM_001033859.2:c.610del NP_001029031.1:p.Ala204ProfsTer30
NM_001270447.1:c.745del NP_001257376.1:p.Ala249ProfsTer30
NM_001270448.1:c.448del NP_001257377.1:p.Ala150ProfsTer30
XM_006721516.2:c.676del XP_006721579.2:p.Ala226ProfsTer30
XM_011523829.1:c.676del XP_011522131.1:p.Ala226ProfsTer30
XM_011523830.1:c.676del XP_011522132.1:p.Ala226ProfsTer30
XR_934021.1:n.783del
XR_934022.1:n.783del
XR_934023.1:n.783del
XM_006721516.3:c.676del XP_006721579.2:p.Ala226ProfsTer30
XM_011523829.2:c.676del XP_011522131.1:p.Ala226ProfsTer30
XM_011523830.2:c.676del XP_011522132.1:p.Ala226ProfsTer30
XM_024450741.1:c.676del XP_024306509.1:p.Ala226ProfsTer30
XR_934021.2:n.735del
XR_934022.2:n.735del
XR_934023.2:n.735del
NM_000018.4:c.676del MANE Select NP_000009.1:p.Ala226ProfsTer30
NM_001033859.3:c.610del NP_001029031.1:p.Ala204ProfsTer30
NM_001270447.2:c.745del NP_001257376.1:p.Ala249ProfsTer30
NM_001270448.2:c.448del NP_001257377.1:p.Ala150ProfsTer30
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