Canonical Allele Identifier: CA2245709348
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932847
ClinVar RCV Id: RCV001200804
dbSNP Id: rs2071289046
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222714_7222715del , CM000679.2:g.7222714_7222715del GRCh38
NC_000017.10:g.7126033_7126034del , CM000679.1:g.7126033_7126034del GRCh37
NC_000017.9:g.7066757_7066758del NCBI36
NG_007975.1:g.7881_7882del
NG_008391.2:g.2338_2339del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.926_927del MANE Select ENSP00000349297.5:p.Glu309GlyfsTer4
ENST00000322910.9:c.*881_*882del ENSP00000325395.5:n.*881_*882del
ENST00000350303.9:c.860_861del ENSP00000344152.5:p.Glu287GlyfsTer4
ENST00000356839.9:c.926_927del ENSP00000349297.5:p.Glu309GlyfsTer4
ENST00000543245.6:c.995_996del ENSP00000438689.2:p.Glu332GlyfsTer4
ENST00000578824.5:n.75_76del
ENST00000581378.5:c.644_645del
ENST00000582379.1:n.310_311del
NM_000018.3:c.926_927del NP_000009.1:p.Glu309GlyfsTer4
NM_001033859.2:c.860_861del NP_001029031.1:p.Glu287GlyfsTer4
NM_001270447.1:c.995_996del NP_001257376.1:p.Glu332GlyfsTer4
NM_001270448.1:c.698_699del NP_001257377.1:p.Glu233GlyfsTer4
XM_006721516.2:c.926_927del XP_006721579.2:p.Glu309GlyfsTer4
XM_011523829.1:c.926_927del XP_011522131.1:p.Glu309GlyfsTer4
XM_011523830.1:c.926_927del XP_011522132.1:p.Glu309GlyfsTer4
XR_934021.1:n.1033_1034del
XR_934022.1:n.1033_1034del
XR_934023.1:n.1033_1034del
XM_006721516.3:c.926_927del XP_006721579.2:p.Glu309GlyfsTer4
XM_011523829.2:c.926_927del XP_011522131.1:p.Glu309GlyfsTer4
XM_011523830.2:c.926_927del XP_011522132.1:p.Glu309GlyfsTer4
XM_024450741.1:c.926_927del XP_024306509.1:p.Glu309GlyfsTer4
XR_934021.2:n.985_986del
XR_934022.2:n.985_986del
XR_934023.2:n.985_986del
NM_000018.4:c.926_927del MANE Select NP_000009.1:p.Glu309GlyfsTer4
NM_001033859.3:c.860_861del NP_001029031.1:p.Glu287GlyfsTer4
NM_001270447.2:c.995_996del NP_001257376.1:p.Glu332GlyfsTer4
NM_001270448.2:c.698_699del NP_001257377.1:p.Glu233GlyfsTer4
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