Canonical Allele Identifier: CA2576147984
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222605-GT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222610del , CM000679.2:g.7222610del GRCh38
NC_000017.10:g.7125929del , CM000679.1:g.7125929del GRCh37
NC_000017.9:g.7066653del NCBI36
NG_007975.1:g.7777del
NG_008391.2:g.2445del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.879-57del MANE Select ENSP00000349297.5:n.879-57del
ENST00000322910.9:c.*834-57del ENSP00000325395.5:n.*834-57del
ENST00000350303.9:c.813-57del ENSP00000344152.5:n.813-57del
ENST00000356839.9:c.879-57del ENSP00000349297.5:n.879-57del
ENST00000543245.6:c.948-57del ENSP00000438689.2:n.948-57del
ENST00000581378.5:c.597-57del
ENST00000582379.1:n.263-57del
NM_000018.3:c.879-57del NP_000009.1:n.879-57del
NM_001033859.2:c.813-57del NP_001029031.1:n.813-57del
NM_001270447.1:c.948-57del NP_001257376.1:n.948-57del
NM_001270448.1:c.651-57del NP_001257377.1:n.651-57del
XM_006721516.2:c.879-57del XP_006721579.2:n.879-57del
XM_011523829.1:c.879-57del XP_011522131.1:n.879-57del
XM_011523830.1:c.879-57del XP_011522132.1:n.879-57del
XR_934021.1:n.986-57del
XR_934022.1:n.986-57del
XR_934023.1:n.986-57del
XM_006721516.3:c.879-57del XP_006721579.2:n.879-57del
XM_011523829.2:c.879-57del XP_011522131.1:n.879-57del
XM_011523830.2:c.879-57del XP_011522132.1:n.879-57del
XM_024450741.1:c.879-57del XP_024306509.1:n.879-57del
XR_934021.2:n.938-57del
XR_934022.2:n.938-57del
XR_934023.2:n.938-57del
NM_000018.4:c.879-57del MANE Select NP_000009.1:n.879-57del
NM_001033859.3:c.813-57del NP_001029031.1:n.813-57del
NM_001270447.2:c.948-57del NP_001257376.1:n.948-57del
NM_001270448.2:c.651-57del NP_001257377.1:n.651-57del
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