Canonical Allele Identifier: CA2576148004
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222670del , CM000679.2:g.7222670del GRCh38
NC_000017.10:g.7125989del , CM000679.1:g.7125989del GRCh37
NC_000017.9:g.7066713del NCBI36
NG_007975.1:g.7837del
NG_008391.2:g.2383del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.882del MANE Select ENSP00000349297.5:p.Pro296LeufsTer?
ENST00000322910.9:c.*837del ENSP00000325395.5:n.*837del
ENST00000350303.9:c.816del ENSP00000344152.5:p.Pro274LeufsTer?
ENST00000356839.9:c.882del ENSP00000349297.5:p.Pro296LeufsTer?
ENST00000543245.6:c.951del ENSP00000438689.2:p.Pro319LeufsTer?
ENST00000578824.5:n.31del
ENST00000581378.5:c.600del
ENST00000582379.1:n.266del
NM_000018.3:c.882del NP_000009.1:p.Pro296LeufsTer?
NM_001033859.2:c.816del NP_001029031.1:p.Pro274LeufsTer?
NM_001270447.1:c.951del NP_001257376.1:p.Pro319LeufsTer?
NM_001270448.1:c.654del NP_001257377.1:p.Pro220LeufsTer?
XM_006721516.2:c.882del XP_006721579.2:p.Pro296LeufsTer?
XM_011523829.1:c.882del XP_011522131.1:p.Pro296LeufsTer?
XM_011523830.1:c.882del XP_011522132.1:p.Pro296LeufsTer?
XR_934021.1:n.989del
XR_934022.1:n.989del
XR_934023.1:n.989del
XM_006721516.3:c.882del XP_006721579.2:p.Pro296LeufsTer?
XM_011523829.2:c.882del XP_011522131.1:p.Pro296LeufsTer?
XM_011523830.2:c.882del XP_011522132.1:p.Pro296LeufsTer?
XM_024450741.1:c.882del XP_024306509.1:p.Pro296LeufsTer?
XR_934021.2:n.941del
XR_934022.2:n.941del
XR_934023.2:n.941del
NM_000018.4:c.882del MANE Select NP_000009.1:p.Pro296LeufsTer?
NM_001033859.3:c.816del NP_001029031.1:p.Pro274LeufsTer?
NM_001270447.2:c.951del NP_001257376.1:p.Pro319LeufsTer?
NM_001270448.2:c.654del NP_001257377.1:p.Pro220LeufsTer?
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