Canonical Allele Identifier: CA2580613972
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2010618

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223707_7223709del , CM000679.2:g.7223707_7223709del GRCh38
NC_000017.10:g.7127026_7127028del , CM000679.1:g.7127026_7127028del GRCh37
NC_000017.9:g.7067750_7067752del NCBI36
NG_007975.1:g.8874_8876del
NG_008391.2:g.1345_1347del
NG_033038.1:g.15839_15841del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1246_1248del MANE Select ENSP00000349297.5:p.Ala416del
ENST00000322910.9:c.*1201_*1203del ENSP00000325395.5:n.*1201_*1203del
ENST00000350303.9:c.1180_1182del ENSP00000344152.5:p.Ala394del
ENST00000356839.9:c.1246_1248del ENSP00000349297.5:p.Ala416del
ENST00000542255.6:c.104_106del
ENST00000543245.6:c.1315_1317del ENSP00000438689.2:p.Ala439del
ENST00000578579.2:n.417_419del
ENST00000578711.1:n.203_205del
ENST00000578824.5:n.662_664del
ENST00000579425.5:n.270_272del
ENST00000579546.1:c.83_85del
ENST00000583850.5:n.21_23del
ENST00000583858.5:c.275_277del
ENST00000585203.6:n.454_456del
NM_000018.3:c.1246_1248del NP_000009.1:p.Ala416del
NM_001033859.2:c.1180_1182del NP_001029031.1:p.Ala394del
NM_001270447.1:c.1315_1317del NP_001257376.1:p.Ala439del
NM_001270448.1:c.1018_1020del NP_001257377.1:p.Ala340del
XM_006721516.2:c.1246_1248del XP_006721579.2:p.Ala416del
XM_011523829.1:c.1246_1248del XP_011522131.1:p.Ala416del
XM_011523830.1:c.1246_1248del XP_011522132.1:p.Ala416del
XR_934021.1:n.1353_1355del
XR_934022.1:n.1353_1355del
XR_934023.1:n.1353_1355del
XM_006721516.3:c.1246_1248del XP_006721579.2:p.Ala416del
XM_011523829.2:c.1246_1248del XP_011522131.1:p.Ala416del
XM_011523830.2:c.1246_1248del XP_011522132.1:p.Ala416del
XM_024450741.1:c.1246_1248del XP_024306509.1:p.Ala416del
XR_934021.2:n.1305_1307del
XR_934022.2:n.1305_1307del
XR_934023.2:n.1305_1307del
NM_000018.4:c.1246_1248del MANE Select NP_000009.1:p.Ala416del
NM_001033859.3:c.1180_1182del NP_001029031.1:p.Ala394del
NM_001270447.2:c.1315_1317del NP_001257376.1:p.Ala439del
NM_001270448.2:c.1018_1020del NP_001257377.1:p.Ala340del