Canonical Allele Identifier: CA2580094768
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2044727
ClinVar RCV Id: RCV002900336
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222747dup , CM000679.2:g.7222747dup GRCh38
NC_000017.10:g.7126066dup , CM000679.1:g.7126066dup GRCh37
NC_000017.9:g.7066790dup NCBI36
NG_007975.1:g.7914dup
NG_008391.2:g.2304dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.959dup MANE Select ENSP00000349297.5:p.Asn321GlufsTer5
ENST00000322910.9:c.*914dup ENSP00000325395.5:n.*914dup
ENST00000350303.9:c.893dup ENSP00000344152.5:p.Asn299GlufsTer5
ENST00000356839.9:c.959dup ENSP00000349297.5:p.Asn321GlufsTer5
ENST00000543245.6:c.1028dup ENSP00000438689.2:p.Asn344GlufsTer5
ENST00000578824.5:n.108dup
ENST00000581378.5:c.677dup
ENST00000582379.1:n.343dup
NM_000018.3:c.959dup NP_000009.1:p.Asn321GlufsTer5
NM_001033859.2:c.893dup NP_001029031.1:p.Asn299GlufsTer5
NM_001270447.1:c.1028dup NP_001257376.1:p.Asn344GlufsTer5
NM_001270448.1:c.731dup NP_001257377.1:p.Asn245GlufsTer5
XM_006721516.2:c.959dup XP_006721579.2:p.Asn321GlufsTer5
XM_011523829.1:c.959dup XP_011522131.1:p.Asn321GlufsTer5
XM_011523830.1:c.959dup XP_011522132.1:p.Asn321GlufsTer5
XR_934021.1:n.1066dup
XR_934022.1:n.1066dup
XR_934023.1:n.1066dup
XM_006721516.3:c.959dup XP_006721579.2:p.Asn321GlufsTer5
XM_011523829.2:c.959dup XP_011522131.1:p.Asn321GlufsTer5
XM_011523830.2:c.959dup XP_011522132.1:p.Asn321GlufsTer5
XM_024450741.1:c.959dup XP_024306509.1:p.Asn321GlufsTer5
XR_934021.2:n.1018dup
XR_934022.2:n.1018dup
XR_934023.2:n.1018dup
NM_000018.4:c.959dup MANE Select NP_000009.1:p.Asn321GlufsTer5
NM_001033859.3:c.893dup NP_001029031.1:p.Asn299GlufsTer5
NM_001270447.2:c.1028dup NP_001257376.1:p.Asn344GlufsTer5
NM_001270448.2:c.731dup NP_001257377.1:p.Asn245GlufsTer5
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