Canonical Allele Identifier: CA2635781830
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222125-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222127del , CM000679.2:g.7222127del GRCh38
NC_000017.10:g.7125446del , CM000679.1:g.7125446del GRCh37
NC_000017.9:g.7066170del NCBI36
NG_007975.1:g.7294del
NG_008391.2:g.2925del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.752+46del MANE Select ENSP00000349297.5:n.752+46del
ENST00000322910.9:c.*707+46del ENSP00000325395.5:n.*707+46del
ENST00000350303.9:c.686+46del ENSP00000344152.5:n.686+46del
ENST00000356839.9:c.752+46del ENSP00000349297.5:n.752+46del
ENST00000543245.6:c.821+46del ENSP00000438689.2:n.821+46del
ENST00000577191.5:n.875del
ENST00000581378.5:c.470+46del
ENST00000582379.1:n.136+46del
ENST00000583760.1:n.580del
NM_000018.3:c.752+46del NP_000009.1:n.752+46del
NM_001033859.2:c.686+46del NP_001029031.1:n.686+46del
NM_001270447.1:c.821+46del NP_001257376.1:n.821+46del
NM_001270448.1:c.524+46del NP_001257377.1:n.524+46del
XM_006721516.2:c.752+46del XP_006721579.2:n.752+46del
XM_011523829.1:c.752+46del XP_011522131.1:n.752+46del
XM_011523830.1:c.752+46del XP_011522132.1:n.752+46del
XR_934021.1:n.859+46del
XR_934022.1:n.859+46del
XR_934023.1:n.859+46del
XM_006721516.3:c.752+46del XP_006721579.2:n.752+46del
XM_011523829.2:c.752+46del XP_011522131.1:n.752+46del
XM_011523830.2:c.752+46del XP_011522132.1:n.752+46del
XM_024450741.1:c.752+46del XP_024306509.1:n.752+46del
XR_934021.2:n.811+46del
XR_934022.2:n.811+46del
XR_934023.2:n.811+46del
NM_000018.4:c.752+46del MANE Select NP_000009.1:n.752+46del
NM_001033859.3:c.686+46del NP_001029031.1:n.686+46del
NM_001270447.2:c.821+46del NP_001257376.1:n.821+46del
NM_001270448.2:c.524+46del NP_001257377.1:n.524+46del
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