Canonical Allele Identifier: CA2695224251
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222708_7222709del , CM000679.2:g.7222708_7222709del GRCh38
NC_000017.10:g.7126027_7126028del , CM000679.1:g.7126027_7126028del GRCh37
NC_000017.9:g.7066751_7066752del NCBI36
NG_007975.1:g.7875_7876del
NG_008391.2:g.2345_2346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.920_921del MANE Select ENSP00000349297.5:p.Thr307SerfsTer6
ENST00000322910.9:c.*875_*876del ENSP00000325395.5:n.*875_*876del
ENST00000350303.9:c.854_855del ENSP00000344152.5:p.Thr285SerfsTer6
ENST00000356839.9:c.920_921del ENSP00000349297.5:p.Thr307SerfsTer6
ENST00000543245.6:c.989_990del ENSP00000438689.2:p.Thr330SerfsTer6
ENST00000578824.5:n.69_70del
ENST00000581378.5:c.638_639del
ENST00000582379.1:n.304_305del
NM_000018.3:c.920_921del NP_000009.1:p.Thr307SerfsTer6
NM_001033859.2:c.854_855del NP_001029031.1:p.Thr285SerfsTer6
NM_001270447.1:c.989_990del NP_001257376.1:p.Thr330SerfsTer6
NM_001270448.1:c.692_693del NP_001257377.1:p.Thr231SerfsTer6
XM_006721516.2:c.920_921del XP_006721579.2:p.Thr307SerfsTer6
XM_011523829.1:c.920_921del XP_011522131.1:p.Thr307SerfsTer6
XM_011523830.1:c.920_921del XP_011522132.1:p.Thr307SerfsTer6
XR_934021.1:n.1027_1028del
XR_934022.1:n.1027_1028del
XR_934023.1:n.1027_1028del
XM_006721516.3:c.920_921del XP_006721579.2:p.Thr307SerfsTer6
XM_011523829.2:c.920_921del XP_011522131.1:p.Thr307SerfsTer6
XM_011523830.2:c.920_921del XP_011522132.1:p.Thr307SerfsTer6
XM_024450741.1:c.920_921del XP_024306509.1:p.Thr307SerfsTer6
XR_934021.2:n.979_980del
XR_934022.2:n.979_980del
XR_934023.2:n.979_980del
NM_000018.4:c.920_921del MANE Select NP_000009.1:p.Thr307SerfsTer6
NM_001033859.3:c.854_855del NP_001029031.1:p.Thr285SerfsTer6
NM_001270447.2:c.989_990del NP_001257376.1:p.Thr330SerfsTer6
NM_001270448.2:c.692_693del NP_001257377.1:p.Thr231SerfsTer6
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