Canonical Allele Identifier: CA2695224250
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222286_7222294del , CM000679.2:g.7222286_7222294del GRCh38
NC_000017.10:g.7125605_7125613del , CM000679.1:g.7125605_7125613del GRCh37
NC_000017.9:g.7066329_7066337del NCBI36
NG_007975.1:g.7453_7461del
NG_008391.2:g.2762_2770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.862_870del MANE Select ENSP00000349297.5:p.Phe288_Gly290del
ENST00000322910.9:c.*817_*825del ENSP00000325395.5:n.*817_*825del
ENST00000350303.9:c.796_804del ENSP00000344152.5:p.Phe266_Gly268del
ENST00000356839.9:c.862_870del ENSP00000349297.5:p.Phe288_Gly290del
ENST00000543245.6:c.931_939del ENSP00000438689.2:p.Phe311_Gly313del
ENST00000577191.5:n.1034_1042del
ENST00000581378.5:c.580_588del
ENST00000582379.1:n.246_254del
NM_000018.3:c.862_870del NP_000009.1:p.Phe288_Gly290del
NM_001033859.2:c.796_804del NP_001029031.1:p.Phe266_Gly268del
NM_001270447.1:c.931_939del NP_001257376.1:p.Phe311_Gly313del
NM_001270448.1:c.634_642del NP_001257377.1:p.Phe212_Gly214del
XM_006721516.2:c.862_870del XP_006721579.2:p.Phe288_Gly290del
XM_011523829.1:c.862_870del XP_011522131.1:p.Phe288_Gly290del
XM_011523830.1:c.862_870del XP_011522132.1:p.Phe288_Gly290del
XR_934021.1:n.969_977del
XR_934022.1:n.969_977del
XR_934023.1:n.969_977del
XM_006721516.3:c.862_870del XP_006721579.2:p.Phe288_Gly290del
XM_011523829.2:c.862_870del XP_011522131.1:p.Phe288_Gly290del
XM_011523830.2:c.862_870del XP_011522132.1:p.Phe288_Gly290del
XM_024450741.1:c.862_870del XP_024306509.1:p.Phe288_Gly290del
XR_934021.2:n.921_929del
XR_934022.2:n.921_929del
XR_934023.2:n.921_929del
NM_000018.4:c.862_870del MANE Select NP_000009.1:p.Phe288_Gly290del
NM_001033859.3:c.796_804del NP_001029031.1:p.Phe266_Gly268del
NM_001270447.2:c.931_939del NP_001257376.1:p.Phe311_Gly313del
NM_001270448.2:c.634_642del NP_001257377.1:p.Phe212_Gly214del
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