Canonical Allele Identifier: CA2580094761
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1724111
ClinVar RCV Id: RCV002306666
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222297_7222298del , CM000679.2:g.7222297_7222298del GRCh38
NC_000017.10:g.7125616_7125617del , CM000679.1:g.7125616_7125617del GRCh37
NC_000017.9:g.7066340_7066341del NCBI36
NG_007975.1:g.7464_7465del
NG_008391.2:g.2753_2754del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.873_874del MANE Select ENSP00000349297.5:p.Thr292ProfsTer5
ENST00000322910.9:c.*828_*829del ENSP00000325395.5:n.*828_*829del
ENST00000350303.9:c.807_808del ENSP00000344152.5:p.Thr270ProfsTer5
ENST00000356839.9:c.873_874del ENSP00000349297.5:p.Thr292ProfsTer5
ENST00000543245.6:c.942_943del ENSP00000438689.2:p.Thr315ProfsTer5
ENST00000577191.5:n.1045_1046del
ENST00000581378.5:c.591_592del
ENST00000582379.1:n.257_258del
NM_000018.3:c.873_874del NP_000009.1:p.Thr292ProfsTer5
NM_001033859.2:c.807_808del NP_001029031.1:p.Thr270ProfsTer5
NM_001270447.1:c.942_943del NP_001257376.1:p.Thr315ProfsTer5
NM_001270448.1:c.645_646del NP_001257377.1:p.Thr216ProfsTer5
XM_006721516.2:c.873_874del XP_006721579.2:p.Thr292ProfsTer5
XM_011523829.1:c.873_874del XP_011522131.1:p.Thr292ProfsTer5
XM_011523830.1:c.873_874del XP_011522132.1:p.Thr292ProfsTer5
XR_934021.1:n.980_981del
XR_934022.1:n.980_981del
XR_934023.1:n.980_981del
XM_006721516.3:c.873_874del XP_006721579.2:p.Thr292ProfsTer5
XM_011523829.2:c.873_874del XP_011522131.1:p.Thr292ProfsTer5
XM_011523830.2:c.873_874del XP_011522132.1:p.Thr292ProfsTer5
XM_024450741.1:c.873_874del XP_024306509.1:p.Thr292ProfsTer5
XR_934021.2:n.932_933del
XR_934022.2:n.932_933del
XR_934023.2:n.932_933del
NM_000018.4:c.873_874del MANE Select NP_000009.1:p.Thr292ProfsTer5
NM_001033859.3:c.807_808del NP_001029031.1:p.Thr270ProfsTer5
NM_001270447.2:c.942_943del NP_001257376.1:p.Thr315ProfsTer5
NM_001270448.2:c.645_646del NP_001257377.1:p.Thr216ProfsTer5
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