Canonical Allele Identifier: CA2635783605
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224169del , CM000679.2:g.7224169del GRCh38
NC_000017.10:g.7127488del , CM000679.1:g.7127488del GRCh37
NC_000017.9:g.7068212del NCBI36
NG_007975.1:g.9336del
NG_008391.2:g.884del
NG_033038.1:g.15378del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1458del MANE Select ENSP00000349297.5:p.Gly488AlafsTer4
ENST00000322910.9:c.*1413del ENSP00000325395.5:n.*1413del
ENST00000350303.9:c.1392del ENSP00000344152.5:p.Gly466AlafsTer4
ENST00000356839.9:c.1458del ENSP00000349297.5:p.Gly488AlafsTer4
ENST00000542255.6:c.316del
ENST00000543245.6:c.1527del ENSP00000438689.2:p.Gly511AlafsTer4
ENST00000578711.1:n.665del
ENST00000579391.1:n.66del
ENST00000579425.5:n.574del
ENST00000579546.1:c.271+100del
ENST00000579894.5:n.245del
ENST00000583074.5:n.153+100del
ENST00000583850.5:n.233del
ENST00000583858.5:c.463+100del
ENST00000585203.6:n.649del
NM_000018.3:c.1458del NP_000009.1:p.Gly488AlafsTer4
NM_001033859.2:c.1392del NP_001029031.1:p.Gly466AlafsTer4
NM_001270447.1:c.1527del NP_001257376.1:p.Gly511AlafsTer4
NM_001270448.1:c.1230del NP_001257377.1:p.Gly412AlafsTer4
XM_006721516.2:c.1458del XP_006721579.2:p.Gly488AlafsTer4
XM_011523829.1:c.1434+100del XP_011522131.1:n.1434+100del
XM_011523830.1:c.1434+100del XP_011522132.1:n.1434+100del
XR_934021.1:n.1565del
XR_934022.1:n.1541+100del
XR_934023.1:n.1541+100del
XM_006721516.3:c.1458del XP_006721579.2:p.Gly488AlafsTer4
XM_011523829.2:c.1434+100del XP_011522131.1:n.1434+100del
XM_011523830.2:c.1434+100del XP_011522132.1:n.1434+100del
XM_024450741.1:c.1434+100del XP_024306509.1:n.1434+100del
XR_934021.2:n.1517del
XR_934022.2:n.1493+100del
XR_934023.2:n.1493+100del
NM_000018.4:c.1458del MANE Select NP_000009.1:p.Gly488AlafsTer4
NM_001033859.3:c.1392del NP_001029031.1:p.Gly466AlafsTer4
NM_001270447.2:c.1527del NP_001257376.1:p.Gly511AlafsTer4
NM_001270448.2:c.1230del NP_001257377.1:p.Gly412AlafsTer4