Canonical Allele Identifier: CA2695224255
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222807del , CM000679.2:g.7222807del GRCh38
NC_000017.10:g.7126126del , CM000679.1:g.7126126del GRCh37
NC_000017.9:g.7066850del NCBI36
NG_007975.1:g.7974del
NG_008391.2:g.2245del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1019del MANE Select ENSP00000349297.5:p.Gly340GlufsTer13
ENST00000322910.9:c.*974del ENSP00000325395.5:n.*974del
ENST00000350303.9:c.953del ENSP00000344152.5:p.Gly318GlufsTer13
ENST00000356839.9:c.1019del ENSP00000349297.5:p.Gly340GlufsTer13
ENST00000543245.6:c.1088del ENSP00000438689.2:p.Gly363GlufsTer13
ENST00000578824.5:n.168del
ENST00000581378.5:c.737del
ENST00000582379.1:n.403del
ENST00000583858.5:c.48del
NM_000018.3:c.1019del NP_000009.1:p.Gly340GlufsTer13
NM_001033859.2:c.953del NP_001029031.1:p.Gly318GlufsTer13
NM_001270447.1:c.1088del NP_001257376.1:p.Gly363GlufsTer13
NM_001270448.1:c.791del NP_001257377.1:p.Gly264GlufsTer13
XM_006721516.2:c.1019del XP_006721579.2:p.Gly340GlufsTer13
XM_011523829.1:c.1019del XP_011522131.1:p.Gly340GlufsTer13
XM_011523830.1:c.1019del XP_011522132.1:p.Gly340GlufsTer13
XR_934021.1:n.1126del
XR_934022.1:n.1126del
XR_934023.1:n.1126del
XM_006721516.3:c.1019del XP_006721579.2:p.Gly340GlufsTer13
XM_011523829.2:c.1019del XP_011522131.1:p.Gly340GlufsTer13
XM_011523830.2:c.1019del XP_011522132.1:p.Gly340GlufsTer13
XM_024450741.1:c.1019del XP_024306509.1:p.Gly340GlufsTer13
XR_934021.2:n.1078del
XR_934022.2:n.1078del
XR_934023.2:n.1078del
NM_000018.4:c.1019del MANE Select NP_000009.1:p.Gly340GlufsTer13
NM_001033859.3:c.953del NP_001029031.1:p.Gly318GlufsTer13
NM_001270447.2:c.1088del NP_001257376.1:p.Gly363GlufsTer13
NM_001270448.2:c.791del NP_001257377.1:p.Gly264GlufsTer13
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