Canonical Allele Identifier: CA8337795
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2038583
ClinVar RCV Id: RCV002895064
dbSNP Id: rs775203527

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221933_7221949del , CM000679.2:g.7221933_7221949del GRCh38
NC_000017.10:g.7125252_7125268del , CM000679.1:g.7125252_7125268del GRCh37
NC_000017.9:g.7065976_7065992del NCBI36
NG_007975.1:g.7100_7116del
NG_008391.2:g.3102_3118del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.623-19_623-3del MANE Select ENSP00000349297.5:n.623-19_623-3del
ENST00000322910.9:c.*578-19_*578-3del ENSP00000325395.5:n.*578-19_*578-3del
ENST00000350303.9:c.557-19_557-3del ENSP00000344152.5:n.557-19_557-3del
ENST00000356839.9:c.623-19_623-3del ENSP00000349297.5:n.623-19_623-3del
ENST00000543245.6:c.692-19_692-3del ENSP00000438689.2:n.692-19_692-3del
ENST00000577191.5:n.700-19_700-3del
ENST00000577857.5:n.439-19_439-3del
ENST00000579286.5:n.804-19_804-3del
ENST00000579886.2:c.461-19_461-3del ENSP00000463246.1:n.461-19_461-3del
ENST00000580365.1:n.354-19_354-3del
ENST00000581378.5:c.341-19_341-3del
ENST00000581562.5:n.525-19_525-3del
ENST00000583312.5:c.623-4_635del
ENST00000583760.1:n.405-19_405-3del
NM_000018.3:c.623-19_623-3del NP_000009.1:n.623-19_623-3del
NM_001033859.2:c.557-19_557-3del NP_001029031.1:n.557-19_557-3del
NM_001270447.1:c.692-19_692-3del NP_001257376.1:n.692-19_692-3del
NM_001270448.1:c.395-19_395-3del NP_001257377.1:n.395-19_395-3del
XM_006721516.2:c.623-19_623-3del XP_006721579.2:n.623-19_623-3del
XM_011523829.1:c.623-19_623-3del XP_011522131.1:n.623-19_623-3del
XM_011523830.1:c.623-19_623-3del XP_011522132.1:n.623-19_623-3del
XR_934021.1:n.730-19_730-3del
XR_934022.1:n.730-19_730-3del
XR_934023.1:n.730-19_730-3del
XM_006721516.3:c.623-19_623-3del XP_006721579.2:n.623-19_623-3del
XM_011523829.2:c.623-19_623-3del XP_011522131.1:n.623-19_623-3del
XM_011523830.2:c.623-19_623-3del XP_011522132.1:n.623-19_623-3del
XM_024450741.1:c.623-19_623-3del XP_024306509.1:n.623-19_623-3del
XR_934021.2:n.682-19_682-3del
XR_934022.2:n.682-19_682-3del
XR_934023.2:n.682-19_682-3del
NM_000018.4:c.623-19_623-3del MANE Select NP_000009.1:n.623-19_623-3del
NM_001033859.3:c.557-19_557-3del NP_001029031.1:n.557-19_557-3del
NM_001270447.2:c.692-19_692-3del NP_001257376.1:n.692-19_692-3del
NM_001270448.2:c.395-19_395-3del NP_001257377.1:n.395-19_395-3del