Canonical Allele Identifier: CA2808366150
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224075_7224076insGG , CM000679.2:g.7224075_7224076insGG GRCh38
NC_000017.10:g.7127394_7127395insGG , CM000679.1:g.7127394_7127395insGG GRCh37
NC_000017.9:g.7068118_7068119insGG NCBI36
NG_007975.1:g.9242_9243insGG
NG_008391.2:g.975_976insCC
NG_033038.1:g.15469_15470insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1434+6_1434+7insGG MANE Select ENSP00000349297.5:n.1434+6_1434+7insGG
ENST00000322910.9:c.*1389+6_*1389+7insGG ENSP00000325395.5:n.*1389+6_*1389+7insGG
ENST00000350303.9:c.1368+6_1368+7insGG ENSP00000344152.5:n.1368+6_1368+7insGG
ENST00000356839.9:c.1434+6_1434+7insGG ENSP00000349297.5:n.1434+6_1434+7insGG
ENST00000542255.6:c.292+6_292+7insGG
ENST00000543245.6:c.1503+6_1503+7insGG ENSP00000438689.2:n.1503+6_1503+7insGG
ENST00000578711.1:n.571_572insGG
ENST00000579425.5:n.550+6_550+7insGG
ENST00000579546.1:c.271+6_271+7insGG
ENST00000579894.5:n.151_152insGG
ENST00000583074.5:n.153+6_153+7insGG
ENST00000583850.5:n.209+6_209+7insGG
ENST00000583858.5:c.463+6_463+7insGG
ENST00000585203.6:n.625+6_625+7insGG
NM_000018.3:c.1434+6_1434+7insGG NP_000009.1:n.1434+6_1434+7insGG
NM_001033859.2:c.1368+6_1368+7insGG NP_001029031.1:n.1368+6_1368+7insGG
NM_001270447.1:c.1503+6_1503+7insGG NP_001257376.1:n.1503+6_1503+7insGG
NM_001270448.1:c.1206+6_1206+7insGG NP_001257377.1:n.1206+6_1206+7insGG
XM_006721516.2:c.1434+6_1434+7insGG XP_006721579.2:n.1434+6_1434+7insGG
XM_011523829.1:c.1434+6_1434+7insGG XP_011522131.1:n.1434+6_1434+7insGG
XM_011523830.1:c.1434+6_1434+7insGG XP_011522132.1:n.1434+6_1434+7insGG
XR_934021.1:n.1541+6_1541+7insGG
XR_934022.1:n.1541+6_1541+7insGG
XR_934023.1:n.1541+6_1541+7insGG
XM_006721516.3:c.1434+6_1434+7insGG XP_006721579.2:n.1434+6_1434+7insGG
XM_011523829.2:c.1434+6_1434+7insGG XP_011522131.1:n.1434+6_1434+7insGG
XM_011523830.2:c.1434+6_1434+7insGG XP_011522132.1:n.1434+6_1434+7insGG
XM_024450741.1:c.1434+6_1434+7insGG XP_024306509.1:n.1434+6_1434+7insGG
XR_934021.2:n.1493+6_1493+7insGG
XR_934022.2:n.1493+6_1493+7insGG
XR_934023.2:n.1493+6_1493+7insGG
NM_000018.4:c.1434+6_1434+7insGG MANE Select NP_000009.1:n.1434+6_1434+7insGG
NM_001033859.3:c.1368+6_1368+7insGG NP_001029031.1:n.1368+6_1368+7insGG
NM_001270447.2:c.1503+6_1503+7insGG NP_001257376.1:n.1503+6_1503+7insGG
NM_001270448.2:c.1206+6_1206+7insGG NP_001257377.1:n.1206+6_1206+7insGG