Canonical Allele Identifier: CA2695201233
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2680210
ClinVar RCV Id: RCV003474402

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222665_7222666del , CM000679.2:g.7222665_7222666del GRCh38
NC_000017.10:g.7125984_7125985del , CM000679.1:g.7125984_7125985del GRCh37
NC_000017.9:g.7066708_7066709del NCBI36
NG_007975.1:g.7832_7833del
NG_008391.2:g.2385_2386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.879-2_879-1del MANE Select ENSP00000349297.5:n.879-2_879-1del
ENST00000322910.9:c.*834-2_*834-1del ENSP00000325395.5:n.*834-2_*834-1del
ENST00000350303.9:c.813-2_813-1del ENSP00000344152.5:n.813-2_813-1del
ENST00000356839.9:c.879-2_879-1del ENSP00000349297.5:n.879-2_879-1del
ENST00000543245.6:c.948-2_948-1del ENSP00000438689.2:n.948-2_948-1del
ENST00000578824.5:n.26_27del
ENST00000581378.5:c.597-2_597-1del
ENST00000582379.1:n.263-2_263-1del
NM_000018.3:c.879-2_879-1del NP_000009.1:n.879-2_879-1del
NM_001033859.2:c.813-2_813-1del NP_001029031.1:n.813-2_813-1del
NM_001270447.1:c.948-2_948-1del NP_001257376.1:n.948-2_948-1del
NM_001270448.1:c.651-2_651-1del NP_001257377.1:n.651-2_651-1del
XM_006721516.2:c.879-2_879-1del XP_006721579.2:n.879-2_879-1del
XM_011523829.1:c.879-2_879-1del XP_011522131.1:n.879-2_879-1del
XM_011523830.1:c.879-2_879-1del XP_011522132.1:n.879-2_879-1del
XR_934021.1:n.986-2_986-1del
XR_934022.1:n.986-2_986-1del
XR_934023.1:n.986-2_986-1del
XM_006721516.3:c.879-2_879-1del XP_006721579.2:n.879-2_879-1del
XM_011523829.2:c.879-2_879-1del XP_011522131.1:n.879-2_879-1del
XM_011523830.2:c.879-2_879-1del XP_011522132.1:n.879-2_879-1del
XM_024450741.1:c.879-2_879-1del XP_024306509.1:n.879-2_879-1del
XR_934021.2:n.938-2_938-1del
XR_934022.2:n.938-2_938-1del
XR_934023.2:n.938-2_938-1del
NM_000018.4:c.879-2_879-1del MANE Select NP_000009.1:n.879-2_879-1del
NM_001033859.3:c.813-2_813-1del NP_001029031.1:n.813-2_813-1del
NM_001270447.2:c.948-2_948-1del NP_001257376.1:n.948-2_948-1del
NM_001270448.2:c.651-2_651-1del NP_001257377.1:n.651-2_651-1del