Canonical Allele Identifier: CA2576148043
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223071del , CM000679.2:g.7223071del GRCh38
NC_000017.10:g.7126390del , CM000679.1:g.7126390del GRCh37
NC_000017.9:g.7067114del NCBI36
NG_007975.1:g.8238del
NG_008391.2:g.1983del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1078-62del MANE Select ENSP00000349297.5:n.1078-62del
ENST00000322910.9:c.*1033-62del ENSP00000325395.5:n.*1033-62del
ENST00000350303.9:c.1012-62del ENSP00000344152.5:n.1012-62del
ENST00000356839.9:c.1078-62del ENSP00000349297.5:n.1078-62del
ENST00000543245.6:c.1147-62del ENSP00000438689.2:n.1147-62del
ENST00000578824.5:n.432del
ENST00000579425.5:n.40del
ENST00000582379.1:n.667del
ENST00000583858.5:c.107-62del
ENST00000585203.6:n.224del
NM_000018.3:c.1078-62del NP_000009.1:n.1078-62del
NM_001033859.2:c.1012-62del NP_001029031.1:n.1012-62del
NM_001270447.1:c.1147-62del NP_001257376.1:n.1147-62del
NM_001270448.1:c.850-62del NP_001257377.1:n.850-62del
XM_006721516.2:c.1078-62del XP_006721579.2:n.1078-62del
XM_011523829.1:c.1078-62del XP_011522131.1:n.1078-62del
XM_011523830.1:c.1078-62del XP_011522132.1:n.1078-62del
XR_934021.1:n.1185-62del
XR_934022.1:n.1185-62del
XR_934023.1:n.1185-62del
XM_006721516.3:c.1078-62del XP_006721579.2:n.1078-62del
XM_011523829.2:c.1078-62del XP_011522131.1:n.1078-62del
XM_011523830.2:c.1078-62del XP_011522132.1:n.1078-62del
XM_024450741.1:c.1078-62del XP_024306509.1:n.1078-62del
XR_934021.2:n.1137-62del
XR_934022.2:n.1137-62del
XR_934023.2:n.1137-62del
NM_000018.4:c.1078-62del MANE Select NP_000009.1:n.1078-62del
NM_001033859.3:c.1012-62del NP_001029031.1:n.1012-62del
NM_001270447.2:c.1147-62del NP_001257376.1:n.1147-62del
NM_001270448.2:c.850-62del NP_001257377.1:n.850-62del