Canonical Allele Identifier: CA2245700968
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222037_7222039delinsCTG , CM000679.2:g.7222037_7222039delinsCTG GRCh38
NC_000017.10:g.7125356_7125358delinsCTG , CM000679.1:g.7125356_7125358delinsCTG GRCh37
NC_000017.9:g.7066080_7066082delinsCTG NCBI36
NG_007975.1:g.7204_7206delinsCTG
NG_008391.2:g.3012_3014delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.708_710delinsCTG MANE Select ENSP00000349297.5:p.Pro236=
ENST00000322910.9:c.*663_*665delinsCTG ENSP00000325395.5:n.*663_*665delinsCTG
ENST00000350303.9:c.642_644delinsCTG ENSP00000344152.5:p.Pro214=
ENST00000356839.9:c.708_710delinsCTG ENSP00000349297.5:p.Pro236=
ENST00000543245.6:c.777_779delinsCTG ENSP00000438689.2:p.Pro259=
ENST00000577191.5:n.785_787delinsCTG
ENST00000577857.5:n.524_526delinsCTG
ENST00000579286.5:n.889_891delinsCTG
ENST00000580365.1:n.439_441delinsCTG
ENST00000581378.5:c.426_428delinsCTG
ENST00000582379.1:n.92_94delinsCTG
ENST00000583760.1:n.490_492delinsCTG
NM_000018.3:c.708_710delinsCTG NP_000009.1:p.Pro236=
NM_001033859.2:c.642_644delinsCTG NP_001029031.1:p.Pro214=
NM_001270447.1:c.777_779delinsCTG NP_001257376.1:p.Pro259=
NM_001270448.1:c.480_482delinsCTG NP_001257377.1:p.Pro160=
XM_006721516.2:c.708_710delinsCTG XP_006721579.2:p.Pro236=
XM_011523829.1:c.708_710delinsCTG XP_011522131.1:p.Pro236=
XM_011523830.1:c.708_710delinsCTG XP_011522132.1:p.Pro236=
XR_934021.1:n.815_817delinsCTG
XR_934022.1:n.815_817delinsCTG
XR_934023.1:n.815_817delinsCTG
XM_006721516.3:c.708_710delinsCTG XP_006721579.2:p.Pro236=
XM_011523829.2:c.708_710delinsCTG XP_011522131.1:p.Pro236=
XM_011523830.2:c.708_710delinsCTG XP_011522132.1:p.Pro236=
XM_024450741.1:c.708_710delinsCTG XP_024306509.1:p.Pro236=
XR_934021.2:n.767_769delinsCTG
XR_934022.2:n.767_769delinsCTG
XR_934023.2:n.767_769delinsCTG
NM_000018.4:c.708_710delinsCTG MANE Select NP_000009.1:p.Pro236=
NM_001033859.3:c.642_644delinsCTG NP_001029031.1:p.Pro214=
NM_001270447.2:c.777_779delinsCTG NP_001257376.1:p.Pro259=
NM_001270448.2:c.480_482delinsCTG NP_001257377.1:p.Pro160=