Canonical Allele Identifier: CA2576148007
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222711_7222713del , CM000679.2:g.7222711_7222713del GRCh38
NC_000017.10:g.7126030_7126032del , CM000679.1:g.7126030_7126032del GRCh37
NC_000017.9:g.7066754_7066756del NCBI36
NG_007975.1:g.7878_7880del
NG_008391.2:g.2341_2343del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.923_925del MANE Select ENSP00000349297.5:p.Ala308del
ENST00000322910.9:c.*878_*880del ENSP00000325395.5:n.*878_*880del
ENST00000350303.9:c.857_859del ENSP00000344152.5:p.Ala286del
ENST00000356839.9:c.923_925del ENSP00000349297.5:p.Ala308del
ENST00000543245.6:c.992_994del ENSP00000438689.2:p.Ala331del
ENST00000578824.5:n.72_74del
ENST00000581378.5:c.641_643del
ENST00000582379.1:n.307_309del
NM_000018.3:c.923_925del NP_000009.1:p.Ala308del
NM_001033859.2:c.857_859del NP_001029031.1:p.Ala286del
NM_001270447.1:c.992_994del NP_001257376.1:p.Ala331del
NM_001270448.1:c.695_697del NP_001257377.1:p.Ala232del
XM_006721516.2:c.923_925del XP_006721579.2:p.Ala308del
XM_011523829.1:c.923_925del XP_011522131.1:p.Ala308del
XM_011523830.1:c.923_925del XP_011522132.1:p.Ala308del
XR_934021.1:n.1030_1032del
XR_934022.1:n.1030_1032del
XR_934023.1:n.1030_1032del
XM_006721516.3:c.923_925del XP_006721579.2:p.Ala308del
XM_011523829.2:c.923_925del XP_011522131.1:p.Ala308del
XM_011523830.2:c.923_925del XP_011522132.1:p.Ala308del
XM_024450741.1:c.923_925del XP_024306509.1:p.Ala308del
XR_934021.2:n.982_984del
XR_934022.2:n.982_984del
XR_934023.2:n.982_984del
NM_000018.4:c.923_925del MANE Select NP_000009.1:p.Ala308del
NM_001033859.3:c.857_859del NP_001029031.1:p.Ala286del
NM_001270447.2:c.992_994del NP_001257376.1:p.Ala331del
NM_001270448.2:c.695_697del NP_001257377.1:p.Ala232del
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