Canonical Allele Identifier: CA2695224257
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224047_7224048del , CM000679.2:g.7224047_7224048del GRCh38
NC_000017.10:g.7127366_7127367del , CM000679.1:g.7127366_7127367del GRCh37
NC_000017.9:g.7068090_7068091del NCBI36
NG_007975.1:g.9214_9215del
NG_008391.2:g.1004_1005del
NG_033038.1:g.15498_15499del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1412_1413del MANE Select ENSP00000349297.5:p.Phe471CysfsTer?
ENST00000322910.9:c.*1367_*1368del ENSP00000325395.5:n.*1367_*1368del
ENST00000350303.9:c.1346_1347del ENSP00000344152.5:p.Phe449CysfsTer?
ENST00000356839.9:c.1412_1413del ENSP00000349297.5:p.Phe471CysfsTer?
ENST00000542255.6:c.270_271del
ENST00000543245.6:c.1481_1482del ENSP00000438689.2:p.Phe494CysfsTer?
ENST00000578711.1:n.543_544del
ENST00000579425.5:n.528_529del
ENST00000579546.1:c.249_250del
ENST00000579894.5:n.123_124del
ENST00000583074.5:n.131_132del
ENST00000583850.5:n.187_188del
ENST00000583858.5:c.441_442del
ENST00000585203.6:n.603_604del
NM_000018.3:c.1412_1413del NP_000009.1:p.Phe471CysfsTer?
NM_001033859.2:c.1346_1347del NP_001029031.1:p.Phe449CysfsTer?
NM_001270447.1:c.1481_1482del NP_001257376.1:p.Phe494CysfsTer?
NM_001270448.1:c.1184_1185del NP_001257377.1:p.Phe395CysfsTer?
XM_006721516.2:c.1412_1413del XP_006721579.2:p.Phe471CysfsTer?
XM_011523829.1:c.1412_1413del XP_011522131.1:p.Phe471CysfsTer16
XM_011523830.1:c.1412_1413del XP_011522132.1:p.Phe471CysfsTer16
XR_934021.1:n.1519_1520del
XR_934022.1:n.1519_1520del
XR_934023.1:n.1519_1520del
XM_006721516.3:c.1412_1413del XP_006721579.2:p.Phe471CysfsTer?
XM_011523829.2:c.1412_1413del XP_011522131.1:p.Phe471CysfsTer16
XM_011523830.2:c.1412_1413del XP_011522132.1:p.Phe471CysfsTer16
XM_024450741.1:c.1412_1413del XP_024306509.1:p.Phe471CysfsTer16
XR_934021.2:n.1471_1472del
XR_934022.2:n.1471_1472del
XR_934023.2:n.1471_1472del
NM_000018.4:c.1412_1413del MANE Select NP_000009.1:p.Phe471CysfsTer?
NM_001033859.3:c.1346_1347del NP_001029031.1:p.Phe449CysfsTer?
NM_001270447.2:c.1481_1482del NP_001257376.1:p.Phe494CysfsTer?
NM_001270448.2:c.1184_1185del NP_001257377.1:p.Phe395CysfsTer?