Canonical Allele Identifier: CA2245716635
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071416854

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7225098del , CM000679.2:g.7225098del GRCh38
NC_000017.10:g.7128417del , CM000679.1:g.7128417del GRCh37
NC_000017.9:g.7069141del NCBI36
NG_007975.1:g.10265del
NG_033038.1:g.14448del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.*1del MANE Select ENSP00000349297.5:n.*1del
ENST00000322910.9:c.*1924del ENSP00000325395.5:n.*1924del
ENST00000350303.9:c.*1del ENSP00000344152.5:n.*1del
ENST00000356839.9:c.*1del ENSP00000349297.5:n.*1del
ENST00000542255.6:c.848del
ENST00000543245.6:c.*1del ENSP00000438689.2:n.*1del
ENST00000578033.1:n.394del
ENST00000578319.5:n.550del
ENST00000578711.1:n.1594del
ENST00000578809.5:n.541del
ENST00000579425.5:n.1085del
ENST00000583848.5:c.335del ENSP00000466487.1:n.335del
ENST00000583850.5:n.740del
ENST00000583858.5:c.900del
NM_000018.3:c.*1del NP_000009.1:n.*1del
NM_001033859.2:c.*1del NP_001029031.1:n.*1del
NM_001270447.1:c.*1del NP_001257376.1:n.*1del
NM_001270448.1:c.*1del NP_001257377.1:n.*1del
XM_006721516.2:c.*1del XP_006721579.2:n.*1del
XM_011523829.1:c.*1del XP_011522131.1:n.*1del
XM_011523830.1:c.*1del XP_011522132.1:n.*1del
XR_934021.1:n.2072del
XR_934022.1:n.1978del
XR_934023.1:n.1999del
XM_006721516.3:c.*1del XP_006721579.2:n.*1del
XM_011523829.2:c.*1del XP_011522131.1:n.*1del
XM_011523830.2:c.*1del XP_011522132.1:n.*1del
XM_024450741.1:c.*1del XP_024306509.1:n.*1del
XR_934021.2:n.2024del
XR_934022.2:n.1930del
XR_934023.2:n.1951del
NM_000018.4:c.*1del MANE Select NP_000009.1:n.*1del
NM_001033859.3:c.*1del NP_001029031.1:n.*1del
NM_001270447.2:c.*1del NP_001257376.1:n.*1del
NM_001270448.2:c.*1del NP_001257377.1:n.*1del