Canonical Allele Identifier: CA2499224900
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1067547
ClinVar RCV Id: RCV001378846
dbSNP Id: rs2142979402

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222579_7222684del , CM000679.2:g.7222579_7222684del GRCh38
NC_000017.10:g.7125898_7126003del , CM000679.1:g.7125898_7126003del GRCh37
NC_000017.9:g.7066622_7066727del NCBI36
NG_007975.1:g.7746_7851del
NG_008391.2:g.2367_2472del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.879-88_896del
ENST00000322910.9:c.*834-88_*851del
ENST00000350303.9:c.813-88_830del
ENST00000356839.9:c.879-88_896del
ENST00000543245.6:c.948-88_965del
ENST00000581378.5:c.597-88_614del
ENST00000582379.1:n.263-88_280del
NM_000018.3:c.879-88_896del
NM_001033859.2:c.813-88_830del
NM_001270447.1:c.948-88_965del
NM_001270448.1:c.651-88_668del
XM_006721516.2:c.879-88_896del
XM_011523829.1:c.879-88_896del
XM_011523830.1:c.879-88_896del
XR_934021.1:n.986-88_1003del
XR_934022.1:n.986-88_1003del
XR_934023.1:n.986-88_1003del
XM_006721516.3:c.879-88_896del
XM_011523829.2:c.879-88_896del
XM_011523830.2:c.879-88_896del
XM_024450741.1:c.879-88_896del
XR_934021.2:n.938-88_955del
XR_934022.2:n.938-88_955del
XR_934023.2:n.938-88_955del
NM_000018.4:c.879-88_896del
NM_001033859.3:c.813-88_830del
NM_001270447.2:c.948-88_965del
NM_001270448.2:c.651-88_668del