Canonical Allele Identifier: CA2808366122
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223660_7223674del , CM000679.2:g.7223660_7223674del GRCh38
NC_000017.10:g.7126979_7126993del , CM000679.1:g.7126979_7126993del GRCh37
NC_000017.9:g.7067703_7067717del NCBI36
NG_007975.1:g.8827_8841del
NG_008391.2:g.1383_1397del
NG_033038.1:g.15877_15891del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1199_1213del MANE Select ENSP00000349297.5:p.Val400_Met404del
ENST00000322910.9:c.*1154_*1168del ENSP00000325395.5:n.*1154_*1168del
ENST00000350303.9:c.1133_1147del ENSP00000344152.5:p.Val378_Met382del
ENST00000356839.9:c.1199_1213del ENSP00000349297.5:p.Val400_Met404del
ENST00000542255.6:c.57_71del
ENST00000543245.6:c.1268_1282del ENSP00000438689.2:p.Val423_Met427del
ENST00000578579.2:n.370_384del
ENST00000578711.1:n.156_170del
ENST00000578824.5:n.615_629del
ENST00000579425.5:n.223_237del
ENST00000579546.1:c.36_50del
ENST00000583858.5:c.228_242del
ENST00000585203.6:n.407_421del
NM_000018.3:c.1199_1213del NP_000009.1:p.Val400_Met404del
NM_001033859.2:c.1133_1147del NP_001029031.1:p.Val378_Met382del
NM_001270447.1:c.1268_1282del NP_001257376.1:p.Val423_Met427del
NM_001270448.1:c.971_985del NP_001257377.1:p.Val324_Met328del
XM_006721516.2:c.1199_1213del XP_006721579.2:p.Val400_Met404del
XM_011523829.1:c.1199_1213del XP_011522131.1:p.Val400_Met404del
XM_011523830.1:c.1199_1213del XP_011522132.1:p.Val400_Met404del
XR_934021.1:n.1306_1320del
XR_934022.1:n.1306_1320del
XR_934023.1:n.1306_1320del
XM_006721516.3:c.1199_1213del XP_006721579.2:p.Val400_Met404del
XM_011523829.2:c.1199_1213del XP_011522131.1:p.Val400_Met404del
XM_011523830.2:c.1199_1213del XP_011522132.1:p.Val400_Met404del
XM_024450741.1:c.1199_1213del XP_024306509.1:p.Val400_Met404del
XR_934021.2:n.1258_1272del
XR_934022.2:n.1258_1272del
XR_934023.2:n.1258_1272del
NM_000018.4:c.1199_1213del MANE Select NP_000009.1:p.Val400_Met404del
NM_001033859.3:c.1133_1147del NP_001029031.1:p.Val378_Met382del
NM_001270447.2:c.1268_1282del NP_001257376.1:p.Val423_Met427del
NM_001270448.2:c.971_985del NP_001257377.1:p.Val324_Met328del