Canonical Allele Identifier: CA2695224249
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222202_7222203del , CM000679.2:g.7222202_7222203del GRCh38
NC_000017.10:g.7125521_7125522del , CM000679.1:g.7125521_7125522del GRCh37
NC_000017.9:g.7066245_7066246del NCBI36
NG_007975.1:g.7369_7370del
NG_008391.2:g.2849_2850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.778_779del MANE Select ENSP00000349297.5:p.Thr260GlyfsTer?
ENST00000322910.9:c.*733_*734del ENSP00000325395.5:n.*733_*734del
ENST00000350303.9:c.712_713del ENSP00000344152.5:p.Thr238GlyfsTer?
ENST00000356839.9:c.778_779del ENSP00000349297.5:p.Thr260GlyfsTer?
ENST00000543245.6:c.847_848del ENSP00000438689.2:p.Thr283GlyfsTer?
ENST00000577191.5:n.950_951del
ENST00000581378.5:c.496_497del
ENST00000582379.1:n.162_163del
NM_000018.3:c.778_779del NP_000009.1:p.Thr260GlyfsTer?
NM_001033859.2:c.712_713del NP_001029031.1:p.Thr238GlyfsTer?
NM_001270447.1:c.847_848del NP_001257376.1:p.Thr283GlyfsTer?
NM_001270448.1:c.550_551del NP_001257377.1:p.Thr184GlyfsTer?
XM_006721516.2:c.778_779del XP_006721579.2:p.Thr260GlyfsTer?
XM_011523829.1:c.778_779del XP_011522131.1:p.Thr260GlyfsTer?
XM_011523830.1:c.778_779del XP_011522132.1:p.Thr260GlyfsTer?
XR_934021.1:n.885_886del
XR_934022.1:n.885_886del
XR_934023.1:n.885_886del
XM_006721516.3:c.778_779del XP_006721579.2:p.Thr260GlyfsTer?
XM_011523829.2:c.778_779del XP_011522131.1:p.Thr260GlyfsTer?
XM_011523830.2:c.778_779del XP_011522132.1:p.Thr260GlyfsTer?
XM_024450741.1:c.778_779del XP_024306509.1:p.Thr260GlyfsTer?
XR_934021.2:n.837_838del
XR_934022.2:n.837_838del
XR_934023.2:n.837_838del
NM_000018.4:c.778_779del MANE Select NP_000009.1:p.Thr260GlyfsTer?
NM_001033859.3:c.712_713del NP_001029031.1:p.Thr238GlyfsTer?
NM_001270447.2:c.847_848del NP_001257376.1:p.Thr283GlyfsTer?
NM_001270448.2:c.550_551del NP_001257377.1:p.Thr184GlyfsTer?
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