Canonical Allele Identifier: CA2635784067
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224330del , CM000679.2:g.7224330del GRCh38
NC_000017.10:g.7127649del , CM000679.1:g.7127649del GRCh37
NC_000017.9:g.7068373del NCBI36
NG_007975.1:g.9497del
NG_008391.2:g.723del
NG_033038.1:g.15217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1542del MANE Select ENSP00000349297.5:p.Leu515TrpfsTer5
ENST00000322910.9:c.*1497del ENSP00000325395.5:n.*1497del
ENST00000350303.9:c.1476del ENSP00000344152.5:p.Leu493TrpfsTer5
ENST00000356839.9:c.1542del ENSP00000349297.5:p.Leu515TrpfsTer5
ENST00000542255.6:c.400del
ENST00000543245.6:c.1611del ENSP00000438689.2:p.Leu538TrpfsTer5
ENST00000578319.5:n.37del
ENST00000578711.1:n.826del
ENST00000578809.5:n.114del
ENST00000579391.1:n.150del
ENST00000579425.5:n.658del
ENST00000579546.1:c.281del
ENST00000579894.5:n.329del
ENST00000582450.1:n.50del
ENST00000583074.5:n.163del
ENST00000583850.5:n.317del
ENST00000583858.5:c.473del
ENST00000585203.6:n.733del
NM_000018.3:c.1542del NP_000009.1:p.Leu515TrpfsTer5
NM_001033859.2:c.1476del NP_001029031.1:p.Leu493TrpfsTer5
NM_001270447.1:c.1611del NP_001257376.1:p.Leu538TrpfsTer5
NM_001270448.1:c.1314del NP_001257377.1:p.Leu439TrpfsTer5
XM_006721516.2:c.1542del XP_006721579.2:p.Leu515TrpfsTer5
XM_011523829.1:c.1444del XP_011522131.1:p.Ala482LeufsTer?
XM_011523830.1:c.1444del XP_011522132.1:p.Ala482LeufsTer?
XR_934021.1:n.1649del
XR_934022.1:n.1551del
XR_934023.1:n.1551del
XM_006721516.3:c.1542del XP_006721579.2:p.Leu515TrpfsTer5
XM_011523829.2:c.1444del XP_011522131.1:p.Ala482LeufsTer?
XM_011523830.2:c.1444del XP_011522132.1:p.Ala482LeufsTer?
XM_024450741.1:c.1444del XP_024306509.1:p.Ala482LeufsTer?
XR_934021.2:n.1601del
XR_934022.2:n.1503del
XR_934023.2:n.1503del
NM_000018.4:c.1542del MANE Select NP_000009.1:p.Leu515TrpfsTer5
NM_001033859.3:c.1476del NP_001029031.1:p.Leu493TrpfsTer5
NM_001270447.2:c.1611del NP_001257376.1:p.Leu538TrpfsTer5
NM_001270448.2:c.1314del NP_001257377.1:p.Leu439TrpfsTer5