Canonical Allele Identifier: CA2580063247
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 2133495
ClinVar RCV Id: RCV003064053

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75750494_75750499del , CM000663.2:g.75750494_75750499del GRCh38
NC_000001.10:g.76216179_76216184del , CM000663.1:g.76216179_76216184del GRCh37
NC_000001.9:g.75988767_75988772del NCBI36
NG_007045.2:g.31137_31142del

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.893_898del MANE Select ENSP00000359878.5:p.Glu298_Thr300delinsAl...
ENST00000473018.3:n.3017_3022del
ENST00000532207.6:n.1782_1787del
ENST00000541113.6:c.849+935_849+940del ENSP00000442324.2:n.849+935_849+940del
ENST00000679509.1:n.1855_1860del
ENST00000679530.1:c.*661_*666del ENSP00000506454.1:n.*661_*666del
ENST00000679615.1:n.2908_2913del
ENST00000679687.1:c.455_460del ENSP00000506598.1:p.Glu152_Thr154delinsAl...
ENST00000679704.1:c.*659_*664del ENSP00000505117.1:n.*659_*664del
ENST00000679709.1:c.*856_*861del ENSP00000506623.1:n.*856_*861del
ENST00000679976.1:c.*477_*482del ENSP00000505565.1:n.*477_*482del
ENST00000680166.1:n.4182_4187del
ENST00000680315.1:n.776_781del
ENST00000680517.1:c.*281_*286del ENSP00000505803.1:n.*281_*286del
ENST00000680582.1:n.1855_1860del
ENST00000680613.1:c.*264_*269del ENSP00000506114.1:n.*264_*269del
ENST00000680662.1:c.*807_*812del ENSP00000505080.1:n.*807_*812del
ENST00000680691.1:c.*556_*561del ENSP00000506487.1:n.*556_*561del
ENST00000680694.1:c.*481_*486del ENSP00000505658.1:n.*481_*486del
ENST00000680743.1:c.*560_*565del ENSP00000505073.1:n.*560_*565del
ENST00000680749.1:c.*178_*183del ENSP00000505122.1:n.*178_*183del
ENST00000680798.1:c.*368_*373del ENSP00000505670.1:n.*368_*373del
ENST00000680805.1:c.752_757del ENSP00000505447.1:p.Glu251_Thr253delinsAl...
ENST00000680844.1:c.*677_*682del ENSP00000506541.1:n.*677_*682del
ENST00000680948.1:c.*760_*765del ENSP00000505441.1:n.*760_*765del
ENST00000680964.1:c.893_898del ENSP00000505961.1:p.Glu298_Thr300delinsAl...
ENST00000681037.1:c.*2377_*2382del ENSP00000506025.1:n.*2377_*2382del
ENST00000681063.1:c.*40_*45del ENSP00000506616.1:n.*40_*45del
ENST00000681209.1:c.*548_*553del ENSP00000505877.1:n.*548_*553del
ENST00000681278.1:n.1250_1255del
ENST00000681289.1:n.4888_4893del
ENST00000681361.1:c.*560_*565del ENSP00000506679.1:n.*560_*565del
ENST00000681430.1:c.893_898del ENSP00000506301.1:p.Glu298_Thr300delinsAl...
ENST00000681446.1:c.*475_*480del ENSP00000506244.1:n.*475_*480del
ENST00000681450.1:c.*564_*569del ENSP00000505660.1:n.*564_*569del
ENST00000681548.1:c.*479_*484del ENSP00000505275.1:n.*479_*484del
ENST00000681616.1:c.*552_*557del ENSP00000505111.1:n.*552_*557del
ENST00000681621.1:c.*477_*482del ENSP00000505770.1:n.*477_*482del
ENST00000681680.1:n.2988_2993del
ENST00000681720.1:c.*348_*353del ENSP00000505438.1:n.*348_*353del
ENST00000681730.1:n.1115_1120del
ENST00000681790.1:c.635_640del ENSP00000505130.1:p.Glu212_Thr214delinsAl...
ENST00000681837.1:n.1509_1514del
ENST00000681913.1:n.3017_3022del
ENST00000681916.1:c.*661_*666del ENSP00000506477.1:n.*661_*666del
ENST00000681930.1:n.3017_3022del
ENST00000370834.9:c.992_997del ENSP00000359871.5:p.Glu331_Thr333delinsAl...
ENST00000370841.8:c.893_898del ENSP00000359878.4:p.Glu298_Thr300delinsAl...
ENST00000420607.6:c.905_910del ENSP00000409612.2:p.Glu302_Thr304delinsAl...
ENST00000481374.1:n.44_49del
ENST00000525808.5:c.*479_*484del ENSP00000434823.1:n.*479_*484del
ENST00000526129.5:c.*677_*682del ENSP00000434092.1:n.*677_*682del
ENST00000526196.5:c.*661_*666del ENSP00000431953.1:n.*661_*666del
ENST00000528016.1:c.107_112del ENSP00000434284.1:p.Glu36_Thr38delinsAla
ENST00000529059.5:n.802_807del
ENST00000532207.5:n.623_628del
ENST00000534334.5:c.*477_*482del ENSP00000435584.1:n.*477_*482del
ENST00000541113.5:c.785_790del ENSP00000442324.1:p.Glu262_Thr264delinsAl...
NM_000016.5:c.893_898del NP_000007.1:p.Glu298_Thr300delinsAla
NM_001127328.2:c.905_910del NP_001120800.1:p.Glu302_Thr304delinsAla
NM_001286042.1:c.785_790del NP_001272971.1:p.Glu262_Thr264delinsAla
NM_001286043.1:c.992_997del NP_001272972.1:p.Glu331_Thr333delinsAla
NM_001286044.1:c.326_331del NP_001272973.1:p.Glu109_Thr111delinsAla
NM_000016.6:c.893_898del MANE Select NP_000007.1:p.Glu298_Thr300delinsAla
NM_001127328.3:c.905_910del NP_001120800.1:p.Glu302_Thr304delinsAla
NM_001286042.2:c.785_790del NP_001272971.1:p.Glu262_Thr264delinsAla
NM_001286043.2:c.992_997del NP_001272972.1:p.Glu331_Thr333delinsAla
NM_001286044.2:c.326_331del NP_001272973.1:p.Glu109_Thr111delinsAla