Canonical Allele Identifier: CA2245714471

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224503_7224519delinsTGCCACTGTGGTGGAGG , CM000679.2:g.7224503_7224519delinsTGCCACTGTGGTGGAGG	GRCh38
NC_000017.10:g.7127822_7127838delinsTGCCACTGTGGTGGAGG , CM000679.1:g.7127822_7127838delinsTGCCACTGTGGTGGAGG	GRCh37
NC_000017.9:g.7068546_7068562delinsTGCCACTGTGGTGGAGG	NCBI36
NG_007975.1:g.9670_9686delinsTGCCACTGTGGTGGAGG
NG_008391.2:g.532_548delinsCCTCCACCACAGTGGCA
NG_033038.1:g.15026_15042delinsCCTCCACCACAGTGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1629_1645delinsTGCCACTGTGGTGGAGG MANE Select	ENSP00000349297.5:p.Phe543=
ENST00000322910.9:c.*1584_*1600delinsTGCCACTGTGGTGGAGG	ENSP00000325395.5:n.*1584_*1600delinsTGCCACTGTGGTGGAGG
ENST00000350303.9:c.1563_1579delinsTGCCACTGTGGTGGAGG	ENSP00000344152.5:p.Phe521=
ENST00000356839.9:c.1629_1645delinsTGCCACTGTGGTGGAGG	ENSP00000349297.5:p.Phe543=
ENST00000542255.6:c.487_503delinsTGCCACTGTGGTGGAGG
ENST00000543245.6:c.1698_1714delinsTGCCACTGTGGTGGAGG	ENSP00000438689.2:p.Phe566=
ENST00000578319.5:n.210_226delinsTGCCACTGTGGTGGAGG
ENST00000578711.1:n.999_1015delinsTGCCACTGTGGTGGAGG
ENST00000578809.5:n.201_217delinsTGCCACTGTGGTGGAGG
ENST00000579391.1:n.233_249delinsTGCCACTGTGGTGGAGG
ENST00000579425.5:n.745_761delinsTGCCACTGTGGTGGAGG
ENST00000579546.1:c.364_380delinsTGCCACTGTGGTGGAGG
ENST00000582450.1:n.137_153delinsTGCCACTGTGGTGGAGG
ENST00000583074.5:n.250_266delinsTGCCACTGTGGTGGAGG
ENST00000583848.5:c.15_31delinsTGCCACTGTGGTGGAGG	ENSP00000466487.1:p.Phe5=
ENST00000583850.5:n.400_416delinsTGCCACTGTGGTGGAGG
ENST00000583858.5:c.560_576delinsTGCCACTGTGGTGGAGG
ENST00000585203.6:n.820_836delinsTGCCACTGTGGTGGAGG
NM_000018.3:c.1629_1645delinsTGCCACTGTGGTGGAGG	NP_000009.1:p.Phe543=
NM_001033859.2:c.1563_1579delinsTGCCACTGTGGTGGAGG	NP_001029031.1:p.Phe521=
NM_001270447.1:c.1698_1714delinsTGCCACTGTGGTGGAGG	NP_001257376.1:p.Phe566=
NM_001270448.1:c.1401_1417delinsTGCCACTGTGGTGGAGG	NP_001257377.1:p.Phe467=
XM_006721516.2:c.1629_1645delinsTGCCACTGTGGTGGAGG	XP_006721579.2:p.Phe543=
XM_011523829.1:c.1527_1543delinsTGCCACTGTGGTGGAGG	XP_011522131.1:p.Phe509=
XM_011523830.1:c.1527_1543delinsTGCCACTGTGGTGGAGG	XP_011522132.1:p.Phe509=
XR_934021.1:n.1732_1748delinsTGCCACTGTGGTGGAGG
XR_934022.1:n.1638_1654delinsTGCCACTGTGGTGGAGG
XR_934023.1:n.1638_1654delinsTGCCACTGTGGTGGAGG
XM_006721516.3:c.1629_1645delinsTGCCACTGTGGTGGAGG	XP_006721579.2:p.Phe543=
XM_011523829.2:c.1527_1543delinsTGCCACTGTGGTGGAGG	XP_011522131.1:p.Phe509=
XM_011523830.2:c.1527_1543delinsTGCCACTGTGGTGGAGG	XP_011522132.1:p.Phe509=
XM_024450741.1:c.1617_1633delinsTGCCACTGTGGTGGAGG	XP_024306509.1:p.Phe539=
XR_934021.2:n.1684_1700delinsTGCCACTGTGGTGGAGG
XR_934022.2:n.1590_1606delinsTGCCACTGTGGTGGAGG
XR_934023.2:n.1590_1606delinsTGCCACTGTGGTGGAGG
NM_000018.4:c.1629_1645delinsTGCCACTGTGGTGGAGG MANE Select	NP_000009.1:p.Phe543=
NM_001033859.3:c.1563_1579delinsTGCCACTGTGGTGGAGG	NP_001029031.1:p.Phe521=
NM_001270447.2:c.1698_1714delinsTGCCACTGTGGTGGAGG	NP_001257376.1:p.Phe566=
NM_001270448.2:c.1401_1417delinsTGCCACTGTGGTGGAGG	NP_001257377.1:p.Phe467=