Canonical Allele Identifier: CA2245701516
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222287_7222288delinsTC , CM000679.2:g.7222287_7222288delinsTC GRCh38
NC_000017.10:g.7125606_7125607delinsTC , CM000679.1:g.7125606_7125607delinsTC GRCh37
NC_000017.9:g.7066330_7066331delinsTC NCBI36
NG_007975.1:g.7454_7455delinsTC
NG_008391.2:g.2763_2764delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.863_864delinsTC MANE Select ENSP00000349297.5:p.Phe288=
ENST00000322910.9:c.*818_*819delinsTC ENSP00000325395.5:n.*818_*819delinsTC
ENST00000350303.9:c.797_798delinsTC ENSP00000344152.5:p.Phe266=
ENST00000356839.9:c.863_864delinsTC ENSP00000349297.5:p.Phe288=
ENST00000543245.6:c.932_933delinsTC ENSP00000438689.2:p.Phe311=
ENST00000577191.5:n.1035_1036delinsTC
ENST00000581378.5:c.581_582delinsTC
ENST00000582379.1:n.247_248delinsTC
NM_000018.3:c.863_864delinsTC NP_000009.1:p.Phe288=
NM_001033859.2:c.797_798delinsTC NP_001029031.1:p.Phe266=
NM_001270447.1:c.932_933delinsTC NP_001257376.1:p.Phe311=
NM_001270448.1:c.635_636delinsTC NP_001257377.1:p.Phe212=
XM_006721516.2:c.863_864delinsTC XP_006721579.2:p.Phe288=
XM_011523829.1:c.863_864delinsTC XP_011522131.1:p.Phe288=
XM_011523830.1:c.863_864delinsTC XP_011522132.1:p.Phe288=
XR_934021.1:n.970_971delinsTC
XR_934022.1:n.970_971delinsTC
XR_934023.1:n.970_971delinsTC
XM_006721516.3:c.863_864delinsTC XP_006721579.2:p.Phe288=
XM_011523829.2:c.863_864delinsTC XP_011522131.1:p.Phe288=
XM_011523830.2:c.863_864delinsTC XP_011522132.1:p.Phe288=
XM_024450741.1:c.863_864delinsTC XP_024306509.1:p.Phe288=
XR_934021.2:n.922_923delinsTC
XR_934022.2:n.922_923delinsTC
XR_934023.2:n.922_923delinsTC
NM_000018.4:c.863_864delinsTC MANE Select NP_000009.1:p.Phe288=
NM_001033859.3:c.797_798delinsTC NP_001029031.1:p.Phe266=
NM_001270447.2:c.932_933delinsTC NP_001257376.1:p.Phe311=
NM_001270448.2:c.635_636delinsTC NP_001257377.1:p.Phe212=
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