Canonical Allele Identifier: CA2245710337
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223076_7223077delinsCT , CM000679.2:g.7223076_7223077delinsCT GRCh38
NC_000017.10:g.7126395_7126396delinsCT , CM000679.1:g.7126395_7126396delinsCT GRCh37
NC_000017.9:g.7067119_7067120delinsCT NCBI36
NG_007975.1:g.8243_8244delinsCT
NG_008391.2:g.1974_1975delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1078-57_1078-56delinsCT MANE Select ENSP00000349297.5:n.1078-57_1078-56delinsCT
ENST00000322910.9:c.*1033-57_*1033-56delinsCT ENSP00000325395.5:n.*1033-57_*1033-56delinsCT
ENST00000350303.9:c.1012-57_1012-56delinsCT ENSP00000344152.5:n.1012-57_1012-56delinsCT
ENST00000356839.9:c.1078-57_1078-56delinsCT ENSP00000349297.5:n.1078-57_1078-56delinsCT
ENST00000543245.6:c.1147-57_1147-56delinsCT ENSP00000438689.2:n.1147-57_1147-56delinsCT
ENST00000578824.5:n.437_438delinsCT
ENST00000579425.5:n.45_46delinsCT
ENST00000582379.1:n.672_673delinsCT
ENST00000583858.5:c.107-57_107-56delinsCT
ENST00000585203.6:n.229_230delinsCT
NM_000018.3:c.1078-57_1078-56delinsCT NP_000009.1:n.1078-57_1078-56delinsCT
NM_001033859.2:c.1012-57_1012-56delinsCT NP_001029031.1:n.1012-57_1012-56delinsCT
NM_001270447.1:c.1147-57_1147-56delinsCT NP_001257376.1:n.1147-57_1147-56delinsCT
NM_001270448.1:c.850-57_850-56delinsCT NP_001257377.1:n.850-57_850-56delinsCT
XM_006721516.2:c.1078-57_1078-56delinsCT XP_006721579.2:n.1078-57_1078-56delinsCT
XM_011523829.1:c.1078-57_1078-56delinsCT XP_011522131.1:n.1078-57_1078-56delinsCT
XM_011523830.1:c.1078-57_1078-56delinsCT XP_011522132.1:n.1078-57_1078-56delinsCT
XR_934021.1:n.1185-57_1185-56delinsCT
XR_934022.1:n.1185-57_1185-56delinsCT
XR_934023.1:n.1185-57_1185-56delinsCT
XM_006721516.3:c.1078-57_1078-56delinsCT XP_006721579.2:n.1078-57_1078-56delinsCT
XM_011523829.2:c.1078-57_1078-56delinsCT XP_011522131.1:n.1078-57_1078-56delinsCT
XM_011523830.2:c.1078-57_1078-56delinsCT XP_011522132.1:n.1078-57_1078-56delinsCT
XM_024450741.1:c.1078-57_1078-56delinsCT XP_024306509.1:n.1078-57_1078-56delinsCT
XR_934021.2:n.1137-57_1137-56delinsCT
XR_934022.2:n.1137-57_1137-56delinsCT
XR_934023.2:n.1137-57_1137-56delinsCT
NM_000018.4:c.1078-57_1078-56delinsCT MANE Select NP_000009.1:n.1078-57_1078-56delinsCT
NM_001033859.3:c.1012-57_1012-56delinsCT NP_001029031.1:n.1012-57_1012-56delinsCT
NM_001270447.2:c.1147-57_1147-56delinsCT NP_001257376.1:n.1147-57_1147-56delinsCT
NM_001270448.2:c.850-57_850-56delinsCT NP_001257377.1:n.850-57_850-56delinsCT