Canonical Allele Identifier: CA2808366129
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223732_7223813del , CM000679.2:g.7223732_7223813del GRCh38
NC_000017.10:g.7127051_7127132del , CM000679.1:g.7127051_7127132del GRCh37
NC_000017.9:g.7067775_7067856del NCBI36
NG_007975.1:g.8899_8980del
NG_008391.2:g.1240_1321del
NG_033038.1:g.15734_15815del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1269+2_1270del
ENST00000322910.9:c.*1224+2_*1225del
ENST00000350303.9:c.1203+2_1204del
ENST00000356839.9:c.1269+2_1270del
ENST00000542255.6:c.127+2_128del
ENST00000543245.6:c.1338+2_1339del
ENST00000578579.2:n.440+2_441del
ENST00000578711.1:n.228_309del
ENST00000578824.5:n.685+2_686del
ENST00000579425.5:n.293+2_294del
ENST00000579546.1:c.106+2_107del
ENST00000583850.5:n.44+2_45del
ENST00000583858.5:c.298+2_299del
ENST00000585203.6:n.477+2_478del
NM_000018.3:c.1269+2_1270del
NM_001033859.2:c.1203+2_1204del
NM_001270447.1:c.1338+2_1339del
NM_001270448.1:c.1041+2_1042del
XM_006721516.2:c.1269+2_1270del
XM_011523829.1:c.1269+2_1270del
XM_011523830.1:c.1269+2_1270del
XR_934021.1:n.1376+2_1377del
XR_934022.1:n.1376+2_1377del
XR_934023.1:n.1376+2_1377del
XM_006721516.3:c.1269+2_1270del
XM_011523829.2:c.1269+2_1270del
XM_011523830.2:c.1269+2_1270del
XM_024450741.1:c.1269+2_1270del
XR_934021.2:n.1328+2_1329del
XR_934022.2:n.1328+2_1329del
XR_934023.2:n.1328+2_1329del
NM_000018.4:c.1269+2_1270del
NM_001033859.3:c.1203+2_1204del
NM_001270447.2:c.1338+2_1339del
NM_001270448.2:c.1041+2_1042del