Canonical Allele Identifier: CA2245701523
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222288_7222289delinsCG , CM000679.2:g.7222288_7222289delinsCG GRCh38
NC_000017.10:g.7125607_7125608delinsCG , CM000679.1:g.7125607_7125608delinsCG GRCh37
NC_000017.9:g.7066331_7066332delinsCG NCBI36
NG_007975.1:g.7455_7456delinsCG
NG_008391.2:g.2762_2763delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.864_865delinsCG MANE Select ENSP00000349297.5:p.Phe288=
ENST00000322910.9:c.*819_*820delinsCG ENSP00000325395.5:n.*819_*820delinsCG
ENST00000350303.9:c.798_799delinsCG ENSP00000344152.5:p.Phe266=
ENST00000356839.9:c.864_865delinsCG ENSP00000349297.5:p.Phe288=
ENST00000543245.6:c.933_934delinsCG ENSP00000438689.2:p.Phe311=
ENST00000577191.5:n.1036_1037delinsCG
ENST00000581378.5:c.582_583delinsCG
ENST00000582379.1:n.248_249delinsCG
NM_000018.3:c.864_865delinsCG NP_000009.1:p.Phe288=
NM_001033859.2:c.798_799delinsCG NP_001029031.1:p.Phe266=
NM_001270447.1:c.933_934delinsCG NP_001257376.1:p.Phe311=
NM_001270448.1:c.636_637delinsCG NP_001257377.1:p.Phe212=
XM_006721516.2:c.864_865delinsCG XP_006721579.2:p.Phe288=
XM_011523829.1:c.864_865delinsCG XP_011522131.1:p.Phe288=
XM_011523830.1:c.864_865delinsCG XP_011522132.1:p.Phe288=
XR_934021.1:n.971_972delinsCG
XR_934022.1:n.971_972delinsCG
XR_934023.1:n.971_972delinsCG
XM_006721516.3:c.864_865delinsCG XP_006721579.2:p.Phe288=
XM_011523829.2:c.864_865delinsCG XP_011522131.1:p.Phe288=
XM_011523830.2:c.864_865delinsCG XP_011522132.1:p.Phe288=
XM_024450741.1:c.864_865delinsCG XP_024306509.1:p.Phe288=
XR_934021.2:n.923_924delinsCG
XR_934022.2:n.923_924delinsCG
XR_934023.2:n.923_924delinsCG
NM_000018.4:c.864_865delinsCG MANE Select NP_000009.1:p.Phe288=
NM_001033859.3:c.798_799delinsCG NP_001029031.1:p.Phe266=
NM_001270447.2:c.933_934delinsCG NP_001257376.1:p.Phe311=
NM_001270448.2:c.636_637delinsCG NP_001257377.1:p.Phe212=
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