Canonical Allele Identifier: CA2580094760
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1725805
ClinVar RCV Id: RCV002309489

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222274_7222275insC , CM000679.2:g.7222274_7222275insC GRCh38
NC_000017.10:g.7125593_7125594insC , CM000679.1:g.7125593_7125594insC GRCh37
NC_000017.9:g.7066317_7066318insC NCBI36
NG_007975.1:g.7441_7442insC
NG_008391.2:g.2776_2777insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.850_851insC MANE Select ENSP00000349297.5:p.Val284AlafsTer14
ENST00000322910.9:c.*805_*806insC ENSP00000325395.5:n.*805_*806insC
ENST00000350303.9:c.784_785insC ENSP00000344152.5:p.Val262AlafsTer14
ENST00000356839.9:c.850_851insC ENSP00000349297.5:p.Val284AlafsTer14
ENST00000543245.6:c.919_920insC ENSP00000438689.2:p.Val307AlafsTer14
ENST00000577191.5:n.1022_1023insC
ENST00000581378.5:c.568_569insC
ENST00000582379.1:n.234_235insC
NM_000018.3:c.850_851insC NP_000009.1:p.Val284AlafsTer14
NM_001033859.2:c.784_785insC NP_001029031.1:p.Val262AlafsTer14
NM_001270447.1:c.919_920insC NP_001257376.1:p.Val307AlafsTer14
NM_001270448.1:c.622_623insC NP_001257377.1:p.Val208AlafsTer14
XM_006721516.2:c.850_851insC XP_006721579.2:p.Val284AlafsTer14
XM_011523829.1:c.850_851insC XP_011522131.1:p.Val284AlafsTer14
XM_011523830.1:c.850_851insC XP_011522132.1:p.Val284AlafsTer14
XR_934021.1:n.957_958insC
XR_934022.1:n.957_958insC
XR_934023.1:n.957_958insC
XM_006721516.3:c.850_851insC XP_006721579.2:p.Val284AlafsTer14
XM_011523829.2:c.850_851insC XP_011522131.1:p.Val284AlafsTer14
XM_011523830.2:c.850_851insC XP_011522132.1:p.Val284AlafsTer14
XM_024450741.1:c.850_851insC XP_024306509.1:p.Val284AlafsTer14
XR_934021.2:n.909_910insC
XR_934022.2:n.909_910insC
XR_934023.2:n.909_910insC
NM_000018.4:c.850_851insC MANE Select NP_000009.1:p.Val284AlafsTer14
NM_001033859.3:c.784_785insC NP_001029031.1:p.Val262AlafsTer14
NM_001270447.2:c.919_920insC NP_001257376.1:p.Val307AlafsTer14
NM_001270448.2:c.622_623insC NP_001257377.1:p.Val208AlafsTer14