Canonical Allele Identifier: CA2580063246
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 2111953
ClinVar RCV Id: RCV003024091

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75750482_75750483delinsTT , CM000663.2:g.75750482_75750483delinsTT GRCh38
NC_000001.10:g.76216167_76216168delinsTT , CM000663.1:g.76216167_76216168delinsTT GRCh37
NC_000001.9:g.75988755_75988756delinsTT NCBI36
NG_007045.2:g.31125_31126delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.881_882delinsTT MANE Select ENSP00000359878.5:p.Arg294Ile
ENST00000473018.3:n.3005_3006delinsTT
ENST00000532207.6:n.1770_1771delinsTT
ENST00000541113.6:c.849+923_849+924delinsTT ENSP00000442324.2:n.849+923_849+924delins...
ENST00000679509.1:n.1843_1844delinsTT
ENST00000679530.1:c.*649_*650delinsTT ENSP00000506454.1:n.*649_*650delinsTT
ENST00000679615.1:n.2896_2897delinsTT
ENST00000679687.1:c.443_444delinsTT ENSP00000506598.1:p.Arg148Ile
ENST00000679704.1:c.*647_*648delinsTT ENSP00000505117.1:n.*647_*648delinsTT
ENST00000679709.1:c.*844_*845delinsTT ENSP00000506623.1:n.*844_*845delinsTT
ENST00000679976.1:c.*465_*466delinsTT ENSP00000505565.1:n.*465_*466delinsTT
ENST00000680166.1:n.4170_4171delinsTT
ENST00000680315.1:n.764_765delinsTT
ENST00000680517.1:c.*269_*270delinsTT ENSP00000505803.1:n.*269_*270delinsTT
ENST00000680582.1:n.1843_1844delinsTT
ENST00000680613.1:c.*252_*253delinsTT ENSP00000506114.1:n.*252_*253delinsTT
ENST00000680662.1:c.*795_*796delinsTT ENSP00000505080.1:n.*795_*796delinsTT
ENST00000680691.1:c.*544_*545delinsTT ENSP00000506487.1:n.*544_*545delinsTT
ENST00000680694.1:c.*469_*470delinsTT ENSP00000505658.1:n.*469_*470delinsTT
ENST00000680743.1:c.*548_*549delinsTT ENSP00000505073.1:n.*548_*549delinsTT
ENST00000680749.1:c.*166_*167delinsTT ENSP00000505122.1:n.*166_*167delinsTT
ENST00000680798.1:c.*356_*357delinsTT ENSP00000505670.1:n.*356_*357delinsTT
ENST00000680805.1:c.740_741delinsTT ENSP00000505447.1:p.Arg247Ile
ENST00000680844.1:c.*665_*666delinsTT ENSP00000506541.1:n.*665_*666delinsTT
ENST00000680948.1:c.*748_*749delinsTT ENSP00000505441.1:n.*748_*749delinsTT
ENST00000680964.1:c.881_882delinsTT ENSP00000505961.1:p.Arg294Ile
ENST00000681037.1:c.*2365_*2366delinsTT ENSP00000506025.1:n.*2365_*2366delinsTT
ENST00000681063.1:c.*28_*29delinsTT ENSP00000506616.1:n.*28_*29delinsTT
ENST00000681209.1:c.*536_*537delinsTT ENSP00000505877.1:n.*536_*537delinsTT
ENST00000681278.1:n.1238_1239delinsTT
ENST00000681289.1:n.4876_4877delinsTT
ENST00000681361.1:c.*548_*549delinsTT ENSP00000506679.1:n.*548_*549delinsTT
ENST00000681430.1:c.881_882delinsTT ENSP00000506301.1:p.Arg294Ile
ENST00000681446.1:c.*463_*464delinsTT ENSP00000506244.1:n.*463_*464delinsTT
ENST00000681450.1:c.*552_*553delinsTT ENSP00000505660.1:n.*552_*553delinsTT
ENST00000681548.1:c.*467_*468delinsTT ENSP00000505275.1:n.*467_*468delinsTT
ENST00000681616.1:c.*540_*541delinsTT ENSP00000505111.1:n.*540_*541delinsTT
ENST00000681621.1:c.*465_*466delinsTT ENSP00000505770.1:n.*465_*466delinsTT
ENST00000681680.1:n.2976_2977delinsTT
ENST00000681720.1:c.*336_*337delinsTT ENSP00000505438.1:n.*336_*337delinsTT
ENST00000681730.1:n.1103_1104delinsTT
ENST00000681790.1:c.623_624delinsTT ENSP00000505130.1:p.Arg208Ile
ENST00000681837.1:n.1497_1498delinsTT
ENST00000681913.1:n.3005_3006delinsTT
ENST00000681916.1:c.*649_*650delinsTT ENSP00000506477.1:n.*649_*650delinsTT
ENST00000681930.1:n.3005_3006delinsTT
ENST00000370834.9:c.980_981delinsTT ENSP00000359871.5:p.Arg327Ile
ENST00000370841.8:c.881_882delinsTT ENSP00000359878.4:p.Arg294Ile
ENST00000420607.6:c.893_894delinsTT ENSP00000409612.2:p.Arg298Ile
ENST00000481374.1:n.32_33delinsTT
ENST00000525808.5:c.*467_*468delinsTT ENSP00000434823.1:n.*467_*468delinsTT
ENST00000526129.5:c.*665_*666delinsTT ENSP00000434092.1:n.*665_*666delinsTT
ENST00000526196.5:c.*649_*650delinsTT ENSP00000431953.1:n.*649_*650delinsTT
ENST00000528016.1:c.95_96delinsTT ENSP00000434284.1:p.Arg32Ile
ENST00000529059.5:n.790_791delinsTT
ENST00000532207.5:n.611_612delinsTT
ENST00000534334.5:c.*465_*466delinsTT ENSP00000435584.1:n.*465_*466delinsTT
ENST00000541113.5:c.773_774delinsTT ENSP00000442324.1:p.Arg258Ile
NM_000016.5:c.881_882delinsTT NP_000007.1:p.Arg294Ile
NM_001127328.2:c.893_894delinsTT NP_001120800.1:p.Arg298Ile
NM_001286042.1:c.773_774delinsTT NP_001272971.1:p.Arg258Ile
NM_001286043.1:c.980_981delinsTT NP_001272972.1:p.Arg327Ile
NM_001286044.1:c.314_315delinsTT NP_001272973.1:p.Arg105Ile
NM_000016.6:c.881_882delinsTT MANE Select NP_000007.1:p.Arg294Ile
NM_001127328.3:c.893_894delinsTT NP_001120800.1:p.Arg298Ile
NM_001286042.2:c.773_774delinsTT NP_001272971.1:p.Arg258Ile
NM_001286043.2:c.980_981delinsTT NP_001272972.1:p.Arg327Ile
NM_001286044.2:c.314_315delinsTT NP_001272973.1:p.Arg105Ile