Canonical Allele Identifier: CA916082040
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 834525
ClinVar RCV Id: RCV001035228
dbSNP Id: rs1648824675

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75761149dup , CM000663.2:g.75761149dup GRCh38
NC_000001.10:g.76226834dup , CM000663.1:g.76226834dup GRCh37
NC_000001.9:g.75999422dup NCBI36
NG_007045.2:g.41792dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370841.9:c.973dup MANE Select ENSP00000359878.5:p.Glu325GlyfsTer7
ENST00000473018.3:n.3097dup
ENST00000532207.6:n.1984dup
ENST00000541113.6:c.877dup ENSP00000442324.2:p.Glu293GlyfsTer7
ENST00000679509.1:n.1935dup
ENST00000679530.1:c.*741dup ENSP00000506454.1:n.*741dup
ENST00000679615.1:n.2988dup
ENST00000679687.1:c.535dup ENSP00000506598.1:p.Glu179GlyfsTer7
ENST00000679704.1:c.*739dup ENSP00000505117.1:n.*739dup
ENST00000679709.1:c.*936dup ENSP00000506623.1:n.*936dup
ENST00000679976.1:c.*557dup ENSP00000505565.1:n.*557dup
ENST00000680166.1:n.4262dup
ENST00000680315.1:n.856dup
ENST00000680517.1:c.*361dup ENSP00000505803.1:n.*361dup
ENST00000680582.1:n.1935dup
ENST00000680613.1:c.*466dup ENSP00000506114.1:n.*466dup
ENST00000680662.1:c.*887dup ENSP00000505080.1:n.*887dup
ENST00000680691.1:c.*636dup ENSP00000506487.1:n.*636dup
ENST00000680694.1:c.*561dup ENSP00000505658.1:n.*561dup
ENST00000680743.1:c.*762dup ENSP00000505073.1:n.*762dup
ENST00000680749.1:c.*258dup ENSP00000505122.1:n.*258dup
ENST00000680798.1:c.*448dup ENSP00000505670.1:n.*448dup
ENST00000680805.1:c.832dup ENSP00000505447.1:p.Glu278GlyfsTer7
ENST00000680844.1:c.*757dup ENSP00000506541.1:n.*757dup
ENST00000680948.1:c.*840dup ENSP00000505441.1:n.*840dup
ENST00000680964.1:c.*66dup ENSP00000505961.1:n.*66dup
ENST00000681037.1:c.*2457dup ENSP00000506025.1:n.*2457dup
ENST00000681063.1:c.*242dup ENSP00000506616.1:n.*242dup
ENST00000681209.1:c.*628dup ENSP00000505877.1:n.*628dup
ENST00000681278.1:n.1675dup
ENST00000681289.1:n.4968dup
ENST00000681361.1:c.*640dup ENSP00000506679.1:n.*640dup
ENST00000681430.1:c.*66dup ENSP00000506301.1:n.*66dup
ENST00000681446.1:c.*677dup ENSP00000506244.1:n.*677dup
ENST00000681450.1:c.*644dup ENSP00000505660.1:n.*644dup
ENST00000681548.1:c.*559dup ENSP00000505275.1:n.*559dup
ENST00000681616.1:c.*632dup ENSP00000505111.1:n.*632dup
ENST00000681621.1:c.*557dup ENSP00000505770.1:n.*557dup
ENST00000681680.1:n.3068dup
ENST00000681720.1:c.*428dup ENSP00000505438.1:n.*428dup
ENST00000681730.1:n.1195dup
ENST00000681790.1:c.715dup ENSP00000505130.1:p.Glu239GlyfsTer7
ENST00000681837.1:n.1589dup
ENST00000681913.1:n.3219dup
ENST00000681916.1:c.*741dup ENSP00000506477.1:n.*741dup
ENST00000681930.1:n.3097dup
ENST00000370834.9:c.1072dup ENSP00000359871.5:p.Glu358GlyfsTer7
ENST00000370841.8:c.973dup ENSP00000359878.4:p.Glu325GlyfsTer7
ENST00000420607.6:c.985dup ENSP00000409612.2:p.Glu329GlyfsTer7
ENST00000481374.1:n.246dup
ENST00000525808.5:c.*559dup ENSP00000434823.1:n.*559dup
ENST00000526129.5:c.*757dup ENSP00000434092.1:n.*757dup
ENST00000526196.5:c.*741dup ENSP00000431953.1:n.*741dup
ENST00000528016.1:c.160-8028dup ENSP00000434284.1:n.160-8028dup
ENST00000529059.5:n.882dup
ENST00000532207.5:n.703dup
ENST00000534334.5:c.*714dup ENSP00000435584.1:n.*714dup
ENST00000541113.5:c.865dup ENSP00000442324.1:p.Glu289GlyfsTer7
NM_000016.5:c.973dup NP_000007.1:p.Glu325GlyfsTer7
NM_001127328.2:c.985dup NP_001120800.1:p.Glu329GlyfsTer7
NM_001286042.1:c.865dup NP_001272971.1:p.Glu289GlyfsTer7
NM_001286043.1:c.1072dup NP_001272972.1:p.Glu358GlyfsTer7
NM_001286044.1:c.406dup NP_001272973.1:p.Glu136GlyfsTer7
NM_000016.6:c.973dup MANE Select NP_000007.1:p.Glu325GlyfsTer7
NM_001127328.3:c.985dup NP_001120800.1:p.Glu329GlyfsTer7
NM_001286042.2:c.865dup NP_001272971.1:p.Glu289GlyfsTer7
NM_001286043.2:c.1072dup NP_001272972.1:p.Glu358GlyfsTer7
NM_001286044.2:c.406dup NP_001272973.1:p.Glu136GlyfsTer7