Canonical Allele Identifier: CA8338034
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs768542571

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223646del , CM000679.2:g.7223646del GRCh38
NC_000017.10:g.7126965del , CM000679.1:g.7126965del GRCh37
NC_000017.9:g.7067689del NCBI36
NG_007975.1:g.8813del
NG_008391.2:g.1406del
NG_033038.1:g.15900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1185del MANE Select ENSP00000349297.5:p.Met396TrpfsTer5
ENST00000322910.9:c.*1140del ENSP00000325395.5:n.*1140del
ENST00000350303.9:c.1119del ENSP00000344152.5:p.Met374TrpfsTer5
ENST00000356839.9:c.1185del ENSP00000349297.5:p.Met396TrpfsTer5
ENST00000542255.6:c.43del
ENST00000543245.6:c.1254del ENSP00000438689.2:p.Met419TrpfsTer5
ENST00000578579.2:n.356del
ENST00000578711.1:n.142del
ENST00000578824.5:n.601del
ENST00000579425.5:n.209del
ENST00000579546.1:c.22del
ENST00000583858.5:c.214del
ENST00000585203.6:n.393del
NM_000018.3:c.1185del NP_000009.1:p.Met396TrpfsTer5
NM_001033859.2:c.1119del NP_001029031.1:p.Met374TrpfsTer5
NM_001270447.1:c.1254del NP_001257376.1:p.Met419TrpfsTer5
NM_001270448.1:c.957del NP_001257377.1:p.Met320TrpfsTer5
XM_006721516.2:c.1185del XP_006721579.2:p.Met396TrpfsTer5
XM_011523829.1:c.1185del XP_011522131.1:p.Met396TrpfsTer5
XM_011523830.1:c.1185del XP_011522132.1:p.Met396TrpfsTer5
XR_934021.1:n.1292del
XR_934022.1:n.1292del
XR_934023.1:n.1292del
XM_006721516.3:c.1185del XP_006721579.2:p.Met396TrpfsTer5
XM_011523829.2:c.1185del XP_011522131.1:p.Met396TrpfsTer5
XM_011523830.2:c.1185del XP_011522132.1:p.Met396TrpfsTer5
XM_024450741.1:c.1185del XP_024306509.1:p.Met396TrpfsTer5
XR_934021.2:n.1244del
XR_934022.2:n.1244del
XR_934023.2:n.1244del
NM_000018.4:c.1185del MANE Select NP_000009.1:p.Met396TrpfsTer5
NM_001033859.3:c.1119del NP_001029031.1:p.Met374TrpfsTer5
NM_001270447.2:c.1254del NP_001257376.1:p.Met419TrpfsTer5
NM_001270448.2:c.957del NP_001257377.1:p.Met320TrpfsTer5