Canonical Allele Identifier: CA16041866
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 370686
dbSNP Id: rs1057516686

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222865_7222866delinsCAC , CM000679.2:g.7222865_7222866delinsCAC GRCh38
NC_000017.10:g.7126184_7126185delinsCAC , CM000679.1:g.7126184_7126185delinsCAC GRCh37
NC_000017.9:g.7066908_7066909delinsCAC NCBI36
NG_007975.1:g.8032_8033delinsCAC
NG_008391.2:g.2185_2186delinsGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1077_1077+1delinsCAC
ENST00000322910.9:c.*1032_*1032+1delinsCAC
ENST00000350303.9:c.1011_1011+1delinsCAC
ENST00000356839.9:c.1077_1077+1delinsCAC
ENST00000543245.6:c.1146_1146+1delinsCAC
ENST00000578824.5:n.226_227delinsCAC
ENST00000582379.1:n.461_462delinsCAC
ENST00000583858.5:n.106_106+1delinsCAC
ENST00000585203.6:n.18_19delinsCAC
NM_000018.3:c.1077_1077+1delinsCAC
NM_001033859.2:c.1011_1011+1delinsCAC
NM_001270447.1:c.1146_1146+1delinsCAC
NM_001270448.1:c.849_849+1delinsCAC
XM_006721516.2:c.1077_1077+1delinsCAC
XM_011523829.1:c.1077_1077+1delinsCAC
XM_011523830.1:c.1077_1077+1delinsCAC
XR_934021.1:n.1184_1184+1delinsCAC
XR_934022.1:n.1184_1184+1delinsCAC
XR_934023.1:n.1184_1184+1delinsCAC
XM_006721516.3:c.1077_1077+1delinsCAC
XM_011523829.2:c.1077_1077+1delinsCAC
XM_011523830.2:c.1077_1077+1delinsCAC
XM_024450741.1:c.1077_1077+1delinsCAC
XR_934021.2:n.1136_1136+1delinsCAC
XR_934022.2:n.1136_1136+1delinsCAC
XR_934023.2:n.1136_1136+1delinsCAC
NM_000018.4:c.1077_1077+1delinsCAC
NM_001033859.3:c.1011_1011+1delinsCAC
NM_001270447.2:c.1146_1146+1delinsCAC
NM_001270448.2:c.849_849+1delinsCAC