Canonical Allele Identifier: CA915949503
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 650581
ClinVar RCV Id: RCV000805756
dbSNP Id: rs1597525249

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221612del , CM000679.2:g.7221612del GRCh38
NC_000017.10:g.7124931del , CM000679.1:g.7124931del GRCh37
NC_000017.9:g.7065655del NCBI36
NG_007975.1:g.6779del
NG_008391.2:g.3439del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.552del MANE Select ENSP00000349297.5:p.Ile184MetfsTer?
ENST00000322910.9:c.*507del ENSP00000325395.5:n.*507del
ENST00000350303.9:c.486del ENSP00000344152.5:p.Ile162MetfsTer?
ENST00000356839.9:c.552del ENSP00000349297.5:p.Ile184MetfsTer?
ENST00000543245.6:c.621del ENSP00000438689.2:p.Ile207MetfsTer?
ENST00000577191.5:n.629del
ENST00000577433.5:n.760del
ENST00000577857.5:n.368del
ENST00000579286.5:n.733del
ENST00000579886.2:c.390del ENSP00000463246.1:p.Ile130MetfsTer?
ENST00000580365.1:n.283del
ENST00000581378.5:c.270del
ENST00000581562.5:n.525-340del
ENST00000582166.1:n.533del
ENST00000583312.5:c.552del ENSP00000467920.1:p.Ile184MetfsTer?
ENST00000583760.1:n.334del
NM_000018.3:c.552del NP_000009.1:p.Ile184MetfsTer?
NM_001033859.2:c.486del NP_001029031.1:p.Ile162MetfsTer?
NM_001270447.1:c.621del NP_001257376.1:p.Ile207MetfsTer?
NM_001270448.1:c.324del NP_001257377.1:p.Ile108MetfsTer?
XM_006721516.2:c.552del XP_006721579.2:p.Ile184MetfsTer?
XM_011523829.1:c.552del XP_011522131.1:p.Ile184MetfsTer?
XM_011523830.1:c.552del XP_011522132.1:p.Ile184MetfsTer?
XR_934021.1:n.659del
XR_934022.1:n.659del
XR_934023.1:n.659del
XM_006721516.3:c.552del XP_006721579.2:p.Ile184MetfsTer?
XM_011523829.2:c.552del XP_011522131.1:p.Ile184MetfsTer?
XM_011523830.2:c.552del XP_011522132.1:p.Ile184MetfsTer?
XM_024450741.1:c.552del XP_024306509.1:p.Ile184MetfsTer?
XR_934021.2:n.611del
XR_934022.2:n.611del
XR_934023.2:n.611del
NM_000018.4:c.552del MANE Select NP_000009.1:p.Ile184MetfsTer?
NM_001033859.3:c.486del NP_001029031.1:p.Ile162MetfsTer?
NM_001270447.2:c.621del NP_001257376.1:p.Ile207MetfsTer?
NM_001270448.2:c.324del NP_001257377.1:p.Ile108MetfsTer?