Canonical Allele Identifier: CA287437668
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs34783309
MyVariant Identifiers: chr17:g.7126138_7126139insG (hg19) chr17:g.7222819_7222820insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222821dup , CM000679.2:g.7222821dup GRCh38
NC_000017.10:g.7126140dup , CM000679.1:g.7126140dup GRCh37
NC_000017.9:g.7066864dup NCBI36
NG_007975.1:g.7988dup
NG_008391.2:g.2231dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1033dup MANE Select ENSP00000349297.5:p.Ala345GlyfsTer14
ENST00000322910.9:c.*988dup ENSP00000325395.5:n.*988dup
ENST00000350303.9:c.967dup ENSP00000344152.5:p.Ala323GlyfsTer14
ENST00000356839.9:c.1033dup ENSP00000349297.5:p.Ala345GlyfsTer14
ENST00000543245.6:c.1102dup ENSP00000438689.2:p.Ala368GlyfsTer14
ENST00000578824.5:n.182dup
ENST00000581378.5:c.751dup
ENST00000582379.1:n.417dup
ENST00000583858.5:c.62dup
NM_000018.3:c.1033dup NP_000009.1:p.Ala345GlyfsTer14
NM_001033859.2:c.967dup NP_001029031.1:p.Ala323GlyfsTer14
NM_001270447.1:c.1102dup NP_001257376.1:p.Ala368GlyfsTer14
NM_001270448.1:c.805dup NP_001257377.1:p.Ala269GlyfsTer14
XM_006721516.2:c.1033dup XP_006721579.2:p.Ala345GlyfsTer14
XM_011523829.1:c.1033dup XP_011522131.1:p.Ala345GlyfsTer14
XM_011523830.1:c.1033dup XP_011522132.1:p.Ala345GlyfsTer14
XR_934021.1:n.1140dup
XR_934022.1:n.1140dup
XR_934023.1:n.1140dup
XM_006721516.3:c.1033dup XP_006721579.2:p.Ala345GlyfsTer14
XM_011523829.2:c.1033dup XP_011522131.1:p.Ala345GlyfsTer14
XM_011523830.2:c.1033dup XP_011522132.1:p.Ala345GlyfsTer14
XM_024450741.1:c.1033dup XP_024306509.1:p.Ala345GlyfsTer14
XR_934021.2:n.1092dup
XR_934022.2:n.1092dup
XR_934023.2:n.1092dup
NM_000018.4:c.1033dup MANE Select NP_000009.1:p.Ala345GlyfsTer14
NM_001033859.3:c.967dup NP_001029031.1:p.Ala323GlyfsTer14
NM_001270447.2:c.1102dup NP_001257376.1:p.Ala368GlyfsTer14
NM_001270448.2:c.805dup NP_001257377.1:p.Ala269GlyfsTer14
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