Canonical Allele Identifier: CA913013641
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222845-AG-A
MyVariant Identifiers: chr17:g.7126165del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222846del , CM000679.2:g.7222846del GRCh38
NC_000017.10:g.7126165del , CM000679.1:g.7126165del GRCh37
NC_000017.9:g.7066889del NCBI36
NG_007975.1:g.8013del
NG_008391.2:g.2205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1058del MANE Select ENSP00000349297.5:p.Arg353LysfsTer8
ENST00000322910.9:c.*1013del ENSP00000325395.5:n.*1013del
ENST00000350303.9:c.992del ENSP00000344152.5:p.Arg331LysfsTer8
ENST00000356839.9:c.1058del ENSP00000349297.5:p.Arg353LysfsTer8
ENST00000543245.6:c.1127del ENSP00000438689.2:p.Arg376LysfsTer8
ENST00000578824.5:n.207del
ENST00000582379.1:n.442del
ENST00000583858.5:c.87del
NM_000018.3:c.1058del NP_000009.1:p.Arg353LysfsTer8
NM_001033859.2:c.992del NP_001029031.1:p.Arg331LysfsTer8
NM_001270447.1:c.1127del NP_001257376.1:p.Arg376LysfsTer8
NM_001270448.1:c.830del NP_001257377.1:p.Arg277LysfsTer8
XM_006721516.2:c.1058del XP_006721579.2:p.Arg353LysfsTer8
XM_011523829.1:c.1058del XP_011522131.1:p.Arg353LysfsTer8
XM_011523830.1:c.1058del XP_011522132.1:p.Arg353LysfsTer8
XR_934021.1:n.1165del
XR_934022.1:n.1165del
XR_934023.1:n.1165del
XM_006721516.3:c.1058del XP_006721579.2:p.Arg353LysfsTer8
XM_011523829.2:c.1058del XP_011522131.1:p.Arg353LysfsTer8
XM_011523830.2:c.1058del XP_011522132.1:p.Arg353LysfsTer8
XM_024450741.1:c.1058del XP_024306509.1:p.Arg353LysfsTer8
XR_934021.2:n.1117del
XR_934022.2:n.1117del
XR_934023.2:n.1117del
NM_000018.4:c.1058del MANE Select NP_000009.1:p.Arg353LysfsTer8
NM_001033859.3:c.992del NP_001029031.1:p.Arg331LysfsTer8
NM_001270447.2:c.1127del NP_001257376.1:p.Arg376LysfsTer8
NM_001270448.2:c.830del NP_001257377.1:p.Arg277LysfsTer8
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