Canonical Allele Identifier: CA891844264
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 572229
ClinVar RCV Id: RCV000693564
dbSNP Id: rs1567564499
MyVariant Identifiers: chr17:g.7125552del (hg19) chr17:g.7222233del (hg38)
ERepo: CA891844264/MONDO:0008723/021
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222233del , CM000679.2:g.7222233del GRCh38
NC_000017.10:g.7125552del , CM000679.1:g.7125552del GRCh37
NC_000017.9:g.7066276del NCBI36
NG_007975.1:g.7400del
NG_008391.2:g.2819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.809del MANE Select ENSP00000349297.5:p.Pro270GlnfsTer6
ENST00000322910.9:c.*764del ENSP00000325395.5:n.*764del
ENST00000350303.9:c.743del ENSP00000344152.5:p.Pro248GlnfsTer6
ENST00000356839.9:c.809del ENSP00000349297.5:p.Pro270GlnfsTer6
ENST00000543245.6:c.878del ENSP00000438689.2:p.Pro293GlnfsTer6
ENST00000577191.5:n.981del
ENST00000581378.5:c.527del
ENST00000582379.1:n.193del
NM_000018.3:c.809del NP_000009.1:p.Pro270GlnfsTer6
NM_001033859.2:c.743del NP_001029031.1:p.Pro248GlnfsTer6
NM_001270447.1:c.878del NP_001257376.1:p.Pro293GlnfsTer6
NM_001270448.1:c.581del NP_001257377.1:p.Pro194GlnfsTer6
XM_006721516.2:c.809del XP_006721579.2:p.Pro270GlnfsTer6
XM_011523829.1:c.809del XP_011522131.1:p.Pro270GlnfsTer6
XM_011523830.1:c.809del XP_011522132.1:p.Pro270GlnfsTer6
XR_934021.1:n.916del
XR_934022.1:n.916del
XR_934023.1:n.916del
XM_006721516.3:c.809del XP_006721579.2:p.Pro270GlnfsTer6
XM_011523829.2:c.809del XP_011522131.1:p.Pro270GlnfsTer6
XM_011523830.2:c.809del XP_011522132.1:p.Pro270GlnfsTer6
XM_024450741.1:c.809del XP_024306509.1:p.Pro270GlnfsTer6
XR_934021.2:n.868del
XR_934022.2:n.868del
XR_934023.2:n.868del
NM_000018.4:c.809del MANE Select NP_000009.1:p.Pro270GlnfsTer6
NM_001033859.3:c.743del NP_001029031.1:p.Pro248GlnfsTer6
NM_001270447.2:c.878del NP_001257376.1:p.Pro293GlnfsTer6
NM_001270448.2:c.581del NP_001257377.1:p.Pro194GlnfsTer6
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