Canonical Allele Identifier: CA2695224254
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222777del , CM000679.2:g.7222777del GRCh38
NC_000017.10:g.7126096del , CM000679.1:g.7126096del GRCh37
NC_000017.9:g.7066820del NCBI36
NG_007975.1:g.7944del
NG_008391.2:g.2275del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.989del MANE Select ENSP00000349297.5:p.Phe330SerfsTer23
ENST00000322910.9:c.*944del ENSP00000325395.5:n.*944del
ENST00000350303.9:c.923del ENSP00000344152.5:p.Phe308SerfsTer23
ENST00000356839.9:c.989del ENSP00000349297.5:p.Phe330SerfsTer23
ENST00000543245.6:c.1058del ENSP00000438689.2:p.Phe353SerfsTer23
ENST00000578824.5:n.138del
ENST00000581378.5:c.707del
ENST00000582379.1:n.373del
ENST00000583858.5:c.18del
NM_000018.3:c.989del NP_000009.1:p.Phe330SerfsTer23
NM_001033859.2:c.923del NP_001029031.1:p.Phe308SerfsTer23
NM_001270447.1:c.1058del NP_001257376.1:p.Phe353SerfsTer23
NM_001270448.1:c.761del NP_001257377.1:p.Phe254SerfsTer23
XM_006721516.2:c.989del XP_006721579.2:p.Phe330SerfsTer23
XM_011523829.1:c.989del XP_011522131.1:p.Phe330SerfsTer23
XM_011523830.1:c.989del XP_011522132.1:p.Phe330SerfsTer23
XR_934021.1:n.1096del
XR_934022.1:n.1096del
XR_934023.1:n.1096del
XM_006721516.3:c.989del XP_006721579.2:p.Phe330SerfsTer23
XM_011523829.2:c.989del XP_011522131.1:p.Phe330SerfsTer23
XM_011523830.2:c.989del XP_011522132.1:p.Phe330SerfsTer23
XM_024450741.1:c.989del XP_024306509.1:p.Phe330SerfsTer23
XR_934021.2:n.1048del
XR_934022.2:n.1048del
XR_934023.2:n.1048del
NM_000018.4:c.989del MANE Select NP_000009.1:p.Phe330SerfsTer23
NM_001033859.3:c.923del NP_001029031.1:p.Phe308SerfsTer23
NM_001270447.2:c.1058del NP_001257376.1:p.Phe353SerfsTer23
NM_001270448.2:c.761del NP_001257377.1:p.Phe254SerfsTer23
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