Canonical Allele Identifier: CA2245712871
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224076_7224078delinsCAG , CM000679.2:g.7224076_7224078delinsCAG GRCh38
NC_000017.10:g.7127395_7127397delinsCAG , CM000679.1:g.7127395_7127397delinsCAG GRCh37
NC_000017.9:g.7068119_7068121delinsCAG NCBI36
NG_007975.1:g.9243_9245delinsCAG
NG_008391.2:g.973_975delinsCTG
NG_033038.1:g.15467_15469delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1434+7_1434+9delinsCAG MANE Select ENSP00000349297.5:n.1434+7_1434+9delinsCAG
ENST00000322910.9:c.*1389+7_*1389+9delinsCAG ENSP00000325395.5:n.*1389+7_*1389+9delinsCAG
ENST00000350303.9:c.1368+7_1368+9delinsCAG ENSP00000344152.5:n.1368+7_1368+9delinsCAG
ENST00000356839.9:c.1434+7_1434+9delinsCAG ENSP00000349297.5:n.1434+7_1434+9delinsCAG
ENST00000542255.6:c.292+7_292+9delinsCAG
ENST00000543245.6:c.1503+7_1503+9delinsCAG ENSP00000438689.2:n.1503+7_1503+9delinsCAG
ENST00000578711.1:n.572_574delinsCAG
ENST00000579425.5:n.550+7_550+9delinsCAG
ENST00000579546.1:c.271+7_271+9delinsCAG
ENST00000579894.5:n.152_154delinsCAG
ENST00000583074.5:n.153+7_153+9delinsCAG
ENST00000583850.5:n.209+7_209+9delinsCAG
ENST00000583858.5:c.463+7_463+9delinsCAG
ENST00000585203.6:n.625+7_625+9delinsCAG
NM_000018.3:c.1434+7_1434+9delinsCAG NP_000009.1:n.1434+7_1434+9delinsCAG
NM_001033859.2:c.1368+7_1368+9delinsCAG NP_001029031.1:n.1368+7_1368+9delinsCAG
NM_001270447.1:c.1503+7_1503+9delinsCAG NP_001257376.1:n.1503+7_1503+9delinsCAG
NM_001270448.1:c.1206+7_1206+9delinsCAG NP_001257377.1:n.1206+7_1206+9delinsCAG
XM_006721516.2:c.1434+7_1434+9delinsCAG XP_006721579.2:n.1434+7_1434+9delinsCAG
XM_011523829.1:c.1434+7_1434+9delinsCAG XP_011522131.1:n.1434+7_1434+9delinsCAG
XM_011523830.1:c.1434+7_1434+9delinsCAG XP_011522132.1:n.1434+7_1434+9delinsCAG
XR_934021.1:n.1541+7_1541+9delinsCAG
XR_934022.1:n.1541+7_1541+9delinsCAG
XR_934023.1:n.1541+7_1541+9delinsCAG
XM_006721516.3:c.1434+7_1434+9delinsCAG XP_006721579.2:n.1434+7_1434+9delinsCAG
XM_011523829.2:c.1434+7_1434+9delinsCAG XP_011522131.1:n.1434+7_1434+9delinsCAG
XM_011523830.2:c.1434+7_1434+9delinsCAG XP_011522132.1:n.1434+7_1434+9delinsCAG
XM_024450741.1:c.1434+7_1434+9delinsCAG XP_024306509.1:n.1434+7_1434+9delinsCAG
XR_934021.2:n.1493+7_1493+9delinsCAG
XR_934022.2:n.1493+7_1493+9delinsCAG
XR_934023.2:n.1493+7_1493+9delinsCAG
NM_000018.4:c.1434+7_1434+9delinsCAG MANE Select NP_000009.1:n.1434+7_1434+9delinsCAG
NM_001033859.3:c.1368+7_1368+9delinsCAG NP_001029031.1:n.1368+7_1368+9delinsCAG
NM_001270447.2:c.1503+7_1503+9delinsCAG NP_001257376.1:n.1503+7_1503+9delinsCAG
NM_001270448.2:c.1206+7_1206+9delinsCAG NP_001257377.1:n.1206+7_1206+9delinsCAG