Canonical Allele Identifier: CA2573154529
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1601682
ClinVar RCV Id: RCV002127433
dbSNP Id: rs2142966623

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220754del , CM000679.2:g.7220754del GRCh38
NC_000017.10:g.7124073del , CM000679.1:g.7124073del GRCh37
NC_000017.9:g.7064797del NCBI36
NG_007975.1:g.5921del
NG_008391.2:g.4301del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.278-12del MANE Select ENSP00000349297.5:n.278-12del
ENST00000322910.9:c.*233-12del ENSP00000325395.5:n.*233-12del
ENST00000350303.9:c.212-12del ENSP00000344152.5:n.212-12del
ENST00000356839.9:c.278-12del ENSP00000349297.5:n.278-12del
ENST00000543245.6:c.347-12del ENSP00000438689.2:n.347-12del
ENST00000577191.5:n.355-12del
ENST00000577433.5:n.486-12del
ENST00000577857.5:n.229-12del
ENST00000579286.5:n.459-12del
ENST00000579886.2:c.202-191del ENSP00000463246.1:n.202-191del
ENST00000580263.5:n.519del
ENST00000581562.5:n.325-12del
ENST00000582056.5:n.368-12del
ENST00000582166.1:n.166-12del
ENST00000582356.5:n.477-12del
ENST00000583312.5:c.278-12del ENSP00000467920.1:n.278-12del
ENST00000584103.5:c.278-12del ENSP00000465353.1:n.278-12del
NM_000018.3:c.278-12del NP_000009.1:n.278-12del
NM_001033859.2:c.212-12del NP_001029031.1:n.212-12del
NM_001270447.1:c.347-12del NP_001257376.1:n.347-12del
NM_001270448.1:c.50-12del NP_001257377.1:n.50-12del
XM_006721516.2:c.278-12del XP_006721579.2:n.278-12del
XM_011523829.1:c.278-12del XP_011522131.1:n.278-12del
XM_011523830.1:c.278-12del XP_011522132.1:n.278-12del
XR_934021.1:n.385-12del
XR_934022.1:n.385-12del
XR_934023.1:n.385-12del
XM_006721516.3:c.278-12del XP_006721579.2:n.278-12del
XM_011523829.2:c.278-12del XP_011522131.1:n.278-12del
XM_011523830.2:c.278-12del XP_011522132.1:n.278-12del
XM_024450741.1:c.278-12del XP_024306509.1:n.278-12del
XR_934021.2:n.337-12del
XR_934022.2:n.337-12del
XR_934023.2:n.337-12del
NM_000018.4:c.278-12del MANE Select NP_000009.1:n.278-12del
NM_001033859.3:c.212-12del NP_001029031.1:n.212-12del
NM_001270447.2:c.347-12del NP_001257376.1:n.347-12del
NM_001270448.2:c.50-12del NP_001257377.1:n.50-12del