Canonical Allele Identifier: CA2245700814

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221969_7221971delinsTTC , CM000679.2:g.7221969_7221971delinsTTC	GRCh38
NC_000017.10:g.7125288_7125290delinsTTC , CM000679.1:g.7125288_7125290delinsTTC	GRCh37
NC_000017.9:g.7066012_7066014delinsTTC	NCBI36
NG_007975.1:g.7136_7138delinsTTC
NG_008391.2:g.3080_3082delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.640_642delinsTTC MANE Select	ENSP00000349297.5:p.Phe214=
ENST00000322910.9:c.*595_*597delinsTTC	ENSP00000325395.5:n.*595_*597delinsTTC
ENST00000350303.9:c.574_576delinsTTC	ENSP00000344152.5:p.Phe192=
ENST00000356839.9:c.640_642delinsTTC	ENSP00000349297.5:p.Phe214=
ENST00000543245.6:c.709_711delinsTTC	ENSP00000438689.2:p.Phe237=
ENST00000577191.5:n.717_719delinsTTC
ENST00000577857.5:n.456_458delinsTTC
ENST00000579286.5:n.821_823delinsTTC
ENST00000580365.1:n.371_373delinsTTC
ENST00000581378.5:c.358_360delinsTTC
ENST00000581562.5:n.542_544delinsTTC
ENST00000582379.1:n.24_26delinsTTC
ENST00000583312.5:c.655_657delinsTTC	ENSP00000467920.1:p.Phe219=
ENST00000583760.1:n.422_424delinsTTC
NM_000018.3:c.640_642delinsTTC	NP_000009.1:p.Phe214=
NM_001033859.2:c.574_576delinsTTC	NP_001029031.1:p.Phe192=
NM_001270447.1:c.709_711delinsTTC	NP_001257376.1:p.Phe237=
NM_001270448.1:c.412_414delinsTTC	NP_001257377.1:p.Phe138=
XM_006721516.2:c.640_642delinsTTC	XP_006721579.2:p.Phe214=
XM_011523829.1:c.640_642delinsTTC	XP_011522131.1:p.Phe214=
XM_011523830.1:c.640_642delinsTTC	XP_011522132.1:p.Phe214=
XR_934021.1:n.747_749delinsTTC
XR_934022.1:n.747_749delinsTTC
XR_934023.1:n.747_749delinsTTC
XM_006721516.3:c.640_642delinsTTC	XP_006721579.2:p.Phe214=
XM_011523829.2:c.640_642delinsTTC	XP_011522131.1:p.Phe214=
XM_011523830.2:c.640_642delinsTTC	XP_011522132.1:p.Phe214=
XM_024450741.1:c.640_642delinsTTC	XP_024306509.1:p.Phe214=
XR_934021.2:n.699_701delinsTTC
XR_934022.2:n.699_701delinsTTC
XR_934023.2:n.699_701delinsTTC
NM_000018.4:c.640_642delinsTTC MANE Select	NP_000009.1:p.Phe214=
NM_001033859.3:c.574_576delinsTTC	NP_001029031.1:p.Phe192=
NM_001270447.2:c.709_711delinsTTC	NP_001257376.1:p.Phe237=
NM_001270448.2:c.412_414delinsTTC	NP_001257377.1:p.Phe138=