Canonical Allele Identifier: CA2580094791

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1724506
• ClinVar RCV Id: RCV002309774

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221649del , CM000679.2:g.7221649del	GRCh38
NC_000017.10:g.7124968del , CM000679.1:g.7124968del	GRCh37
NC_000017.9:g.7065692del	NCBI36
NG_007975.1:g.6816del
NG_008391.2:g.3404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.589del MANE Select	ENSP00000349297.5:p.Gln197ArgfsTer20
ENST00000322910.9:c.*544del	ENSP00000325395.5:n.*544del
ENST00000350303.9:c.523del	ENSP00000344152.5:p.Gln175ArgfsTer20
ENST00000356839.9:c.589del	ENSP00000349297.5:p.Gln197ArgfsTer20
ENST00000543245.6:c.658del	ENSP00000438689.2:p.Gln220ArgfsTer20
ENST00000577191.5:n.666del
ENST00000577433.5:n.797del
ENST00000577857.5:n.405del
ENST00000579286.5:n.770del
ENST00000579886.2:c.427del	ENSP00000463246.1:p.Gln143ArgfsTer?
ENST00000580365.1:n.320del
ENST00000581378.5:c.307del
ENST00000581562.5:n.525-303del
ENST00000583312.5:c.589del	ENSP00000467920.1:p.Gln197ArgfsTer25
ENST00000583760.1:n.371del
NM_000018.3:c.589del	NP_000009.1:p.Gln197ArgfsTer20
NM_001033859.2:c.523del	NP_001029031.1:p.Gln175ArgfsTer20
NM_001270447.1:c.658del	NP_001257376.1:p.Gln220ArgfsTer20
NM_001270448.1:c.361del	NP_001257377.1:p.Gln121ArgfsTer20
XM_006721516.2:c.589del	XP_006721579.2:p.Gln197ArgfsTer20
XM_011523829.1:c.589del	XP_011522131.1:p.Gln197ArgfsTer20
XM_011523830.1:c.589del	XP_011522132.1:p.Gln197ArgfsTer20
XR_934021.1:n.696del
XR_934022.1:n.696del
XR_934023.1:n.696del
XM_006721516.3:c.589del	XP_006721579.2:p.Gln197ArgfsTer20
XM_011523829.2:c.589del	XP_011522131.1:p.Gln197ArgfsTer20
XM_011523830.2:c.589del	XP_011522132.1:p.Gln197ArgfsTer20
XM_024450741.1:c.589del	XP_024306509.1:p.Gln197ArgfsTer20
XR_934021.2:n.648del
XR_934022.2:n.648del
XR_934023.2:n.648del
NM_000018.4:c.589del MANE Select	NP_000009.1:p.Gln197ArgfsTer20
NM_001033859.3:c.523del	NP_001029031.1:p.Gln175ArgfsTer20
NM_001270447.2:c.658del	NP_001257376.1:p.Gln220ArgfsTer20
NM_001270448.2:c.361del	NP_001257377.1:p.Gln121ArgfsTer20