Canonical Allele Identifier: CA2697557227
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2725660
ClinVar RCV Id: RCV003499625

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221988_7222001del , CM000679.2:g.7221988_7222001del GRCh38
NC_000017.10:g.7125307_7125320del , CM000679.1:g.7125307_7125320del GRCh37
NC_000017.9:g.7066031_7066044del NCBI36
NG_007975.1:g.7155_7168del
NG_008391.2:g.3051_3064del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.659_672del MANE Select ENSP00000349297.5:p.Ser220CysfsTer28
ENST00000322910.9:c.*614_*627del ENSP00000325395.5:n.*614_*627del
ENST00000350303.9:c.593_606del ENSP00000344152.5:p.Ser198CysfsTer28
ENST00000356839.9:c.659_672del ENSP00000349297.5:p.Ser220CysfsTer28
ENST00000543245.6:c.728_741del ENSP00000438689.2:p.Ser243CysfsTer28
ENST00000577191.5:n.736_749del
ENST00000577857.5:n.475_488del
ENST00000579286.5:n.840_853del
ENST00000580365.1:n.390_403del
ENST00000581378.5:c.377_390del
ENST00000582379.1:n.43_56del
ENST00000583760.1:n.441_454del
NM_000018.3:c.659_672del NP_000009.1:p.Ser220CysfsTer28
NM_001033859.2:c.593_606del NP_001029031.1:p.Ser198CysfsTer28
NM_001270447.1:c.728_741del NP_001257376.1:p.Ser243CysfsTer28
NM_001270448.1:c.431_444del NP_001257377.1:p.Ser144CysfsTer28
XM_006721516.2:c.659_672del XP_006721579.2:p.Ser220CysfsTer28
XM_011523829.1:c.659_672del XP_011522131.1:p.Ser220CysfsTer28
XM_011523830.1:c.659_672del XP_011522132.1:p.Ser220CysfsTer28
XR_934021.1:n.766_779del
XR_934022.1:n.766_779del
XR_934023.1:n.766_779del
XM_006721516.3:c.659_672del XP_006721579.2:p.Ser220CysfsTer28
XM_011523829.2:c.659_672del XP_011522131.1:p.Ser220CysfsTer28
XM_011523830.2:c.659_672del XP_011522132.1:p.Ser220CysfsTer28
XM_024450741.1:c.659_672del XP_024306509.1:p.Ser220CysfsTer28
XR_934021.2:n.718_731del
XR_934022.2:n.718_731del
XR_934023.2:n.718_731del
NM_000018.4:c.659_672del MANE Select NP_000009.1:p.Ser220CysfsTer28
NM_001033859.3:c.593_606del NP_001029031.1:p.Ser198CysfsTer28
NM_001270447.2:c.728_741del NP_001257376.1:p.Ser243CysfsTer28
NM_001270448.2:c.431_444del NP_001257377.1:p.Ser144CysfsTer28