Canonical Allele Identifier: CA1139533037

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2446890
• ClinVar RCV Id: RCV003164887
• ERepo: CA1139533037/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222785_7222786insT , CM000679.2:g.7222785_7222786insT	GRCh38
NC_000017.10:g.7126104_7126105insT , CM000679.1:g.7126104_7126105insT	GRCh37
NC_000017.9:g.7066828_7066829insT	NCBI36
NG_007975.1:g.7952_7953insT
NG_008391.2:g.2265_2266insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.997_998insT MANE Select	ENSP00000349297.5:p.Ala333ValfsTer26
ENST00000322910.9:c.*952_*953insT	ENSP00000325395.5:n.*952_*953insT
ENST00000350303.9:c.931_932insT	ENSP00000344152.5:p.Ala311ValfsTer26
ENST00000356839.9:c.997_998insT	ENSP00000349297.5:p.Ala333ValfsTer26
ENST00000543245.6:c.1066_1067insT	ENSP00000438689.2:p.Ala356ValfsTer26
ENST00000578824.5:n.146_147insT
ENST00000581378.5:c.715_716insT
ENST00000582379.1:n.381_382insT
ENST00000583858.5:c.26_27insT
NM_000018.3:c.997_998insT	NP_000009.1:p.Ala333ValfsTer26
NM_001033859.2:c.931_932insT	NP_001029031.1:p.Ala311ValfsTer26
NM_001270447.1:c.1066_1067insT	NP_001257376.1:p.Ala356ValfsTer26
NM_001270448.1:c.769_770insT	NP_001257377.1:p.Ala257ValfsTer26
XM_006721516.2:c.997_998insT	XP_006721579.2:p.Ala333ValfsTer26
XM_011523829.1:c.997_998insT	XP_011522131.1:p.Ala333ValfsTer26
XM_011523830.1:c.997_998insT	XP_011522132.1:p.Ala333ValfsTer26
XR_934021.1:n.1104_1105insT
XR_934022.1:n.1104_1105insT
XR_934023.1:n.1104_1105insT
XM_006721516.3:c.997_998insT	XP_006721579.2:p.Ala333ValfsTer26
XM_011523829.2:c.997_998insT	XP_011522131.1:p.Ala333ValfsTer26
XM_011523830.2:c.997_998insT	XP_011522132.1:p.Ala333ValfsTer26
XM_024450741.1:c.997_998insT	XP_024306509.1:p.Ala333ValfsTer26
XR_934021.2:n.1056_1057insT
XR_934022.2:n.1056_1057insT
XR_934023.2:n.1056_1057insT
NM_000018.4:c.997_998insT MANE Select	NP_000009.1:p.Ala333ValfsTer26
NM_001033859.3:c.931_932insT	NP_001029031.1:p.Ala311ValfsTer26
NM_001270447.2:c.1066_1067insT	NP_001257376.1:p.Ala356ValfsTer26
NM_001270448.2:c.769_770insT	NP_001257377.1:p.Ala257ValfsTer26