Canonical Allele Identifier: CA2580094797
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2099018
ClinVar RCV Id: RCV003022792

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221669del , CM000679.2:g.7221669del GRCh38
NC_000017.10:g.7124988del , CM000679.1:g.7124988del GRCh37
NC_000017.9:g.7065712del NCBI36
NG_007975.1:g.6836del
NG_008391.2:g.3385del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.609del MANE Select ENSP00000349297.5:p.Lys204SerfsTer13
ENST00000322910.9:c.*564del ENSP00000325395.5:n.*564del
ENST00000350303.9:c.543del ENSP00000344152.5:p.Lys182SerfsTer13
ENST00000356839.9:c.609del ENSP00000349297.5:p.Lys204SerfsTer13
ENST00000543245.6:c.678del ENSP00000438689.2:p.Lys227SerfsTer13
ENST00000577191.5:n.686del
ENST00000577857.5:n.425del
ENST00000579286.5:n.790del
ENST00000579886.2:c.447del ENSP00000463246.1:p.Lys150SerfsTer?
ENST00000580365.1:n.340del
ENST00000581378.5:c.327del
ENST00000581562.5:n.525-283del
ENST00000583312.5:c.609del ENSP00000467920.1:p.Lys204SerfsTer18
ENST00000583760.1:n.391del
NM_000018.3:c.609del NP_000009.1:p.Lys204SerfsTer13
NM_001033859.2:c.543del NP_001029031.1:p.Lys182SerfsTer13
NM_001270447.1:c.678del NP_001257376.1:p.Lys227SerfsTer13
NM_001270448.1:c.381del NP_001257377.1:p.Lys128SerfsTer13
XM_006721516.2:c.609del XP_006721579.2:p.Lys204SerfsTer13
XM_011523829.1:c.609del XP_011522131.1:p.Lys204SerfsTer13
XM_011523830.1:c.609del XP_011522132.1:p.Lys204SerfsTer13
XR_934021.1:n.716del
XR_934022.1:n.716del
XR_934023.1:n.716del
XM_006721516.3:c.609del XP_006721579.2:p.Lys204SerfsTer13
XM_011523829.2:c.609del XP_011522131.1:p.Lys204SerfsTer13
XM_011523830.2:c.609del XP_011522132.1:p.Lys204SerfsTer13
XM_024450741.1:c.609del XP_024306509.1:p.Lys204SerfsTer13
XR_934021.2:n.668del
XR_934022.2:n.668del
XR_934023.2:n.668del
NM_000018.4:c.609del MANE Select NP_000009.1:p.Lys204SerfsTer13
NM_001033859.3:c.543del NP_001029031.1:p.Lys182SerfsTer13
NM_001270447.2:c.678del NP_001257376.1:p.Lys227SerfsTer13
NM_001270448.2:c.381del NP_001257377.1:p.Lys128SerfsTer13