Canonical Allele Identifier: CA2245701193
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1040189
ClinVar RCV Id: RCV001343788
dbSNP Id: rs2071263119
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222172del , CM000679.2:g.7222172del GRCh38
NC_000017.10:g.7125491del , CM000679.1:g.7125491del GRCh37
NC_000017.9:g.7066215del NCBI36
NG_007975.1:g.7339del
NG_008391.2:g.2880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.753-5del MANE Select ENSP00000349297.5:n.753-5del
ENST00000322910.9:c.*708-5del ENSP00000325395.5:n.*708-5del
ENST00000350303.9:c.687-5del ENSP00000344152.5:n.687-5del
ENST00000356839.9:c.753-5del ENSP00000349297.5:n.753-5del
ENST00000543245.6:c.822-5del ENSP00000438689.2:n.822-5del
ENST00000577191.5:n.920del
ENST00000581378.5:c.471-5del
ENST00000582379.1:n.137-5del
NM_000018.3:c.753-5del NP_000009.1:n.753-5del
NM_001033859.2:c.687-5del NP_001029031.1:n.687-5del
NM_001270447.1:c.822-5del NP_001257376.1:n.822-5del
NM_001270448.1:c.525-5del NP_001257377.1:n.525-5del
XM_006721516.2:c.753-5del XP_006721579.2:n.753-5del
XM_011523829.1:c.753-5del XP_011522131.1:n.753-5del
XM_011523830.1:c.753-5del XP_011522132.1:n.753-5del
XR_934021.1:n.860-5del
XR_934022.1:n.860-5del
XR_934023.1:n.860-5del
XM_006721516.3:c.753-5del XP_006721579.2:n.753-5del
XM_011523829.2:c.753-5del XP_011522131.1:n.753-5del
XM_011523830.2:c.753-5del XP_011522132.1:n.753-5del
XM_024450741.1:c.753-5del XP_024306509.1:n.753-5del
XR_934021.2:n.812-5del
XR_934022.2:n.812-5del
XR_934023.2:n.812-5del
NM_000018.4:c.753-5del MANE Select NP_000009.1:n.753-5del
NM_001033859.3:c.687-5del NP_001029031.1:n.687-5del
NM_001270447.2:c.822-5del NP_001257376.1:n.822-5del
NM_001270448.2:c.525-5del NP_001257377.1:n.525-5del
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