Canonical Allele Identifier: CA2646246371
Gene: ACADM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75740015_75740028del , CM000663.2:g.75740015_75740028del GRCh38
NC_000001.10:g.76205700_76205713del , CM000663.1:g.76205700_76205713del GRCh37
NC_000001.9:g.75978288_75978301del NCBI36
NG_007045.2:g.20658_20671del

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.504_517del MANE Select ENSP00000359878.5:p.Asp168GlufsTer10
ENST00000473018.3:n.2628_2641del
ENST00000541113.6:c.504_517del ENSP00000442324.2:p.Asp168GlufsTer10
ENST00000679509.1:n.1466_1479del
ENST00000679530.1:c.*272_*285del ENSP00000506454.1:n.*272_*285del
ENST00000679615.1:n.2628_2641del
ENST00000679687.1:c.66_79del ENSP00000506598.1:p.Asp22GlufsTer10
ENST00000679704.1:c.*270_*283del ENSP00000505117.1:n.*270_*283del
ENST00000679709.1:c.*467_*480del ENSP00000506623.1:n.*467_*480del
ENST00000679804.1:n.243_256del
ENST00000679976.1:c.*88_*101del ENSP00000505565.1:n.*88_*101del
ENST00000680166.1:n.3793_3806del
ENST00000680517.1:c.*1_*14del ENSP00000505803.1:n.*1_*14del
ENST00000680582.1:n.1466_1479del
ENST00000680613.1:c.504_517del ENSP00000506114.1:p.Asp168GlufsTer10
ENST00000680662.1:c.*418_*431del ENSP00000505080.1:n.*418_*431del
ENST00000680691.1:c.*167_*180del ENSP00000506487.1:n.*167_*180del
ENST00000680694.1:c.*92_*105del ENSP00000505658.1:n.*92_*105del
ENST00000680743.1:c.*171_*184del ENSP00000505073.1:n.*171_*184del
ENST00000680749.1:c.504_517del ENSP00000505122.1:p.Asp168GlufsTer10
ENST00000680798.1:c.*88_*101del ENSP00000505670.1:n.*88_*101del
ENST00000680805.1:c.504_517del ENSP00000505447.1:p.Asp168GlufsTer10
ENST00000680844.1:c.*288_*301del ENSP00000506541.1:n.*288_*301del
ENST00000680948.1:c.*371_*384del ENSP00000505441.1:n.*371_*384del
ENST00000680964.1:c.504_517del ENSP00000505961.1:p.Asp168GlufsTer10
ENST00000681037.1:c.504_517del ENSP00000506025.1:p.Asp168GlufsTer10
ENST00000681063.1:c.504_517del ENSP00000506616.1:p.Asp168GlufsTer10
ENST00000681209.1:c.*268_*281del ENSP00000505877.1:n.*268_*281del
ENST00000681278.1:n.861_874del
ENST00000681289.1:n.861_874del
ENST00000681361.1:c.*171_*184del ENSP00000506679.1:n.*171_*184del
ENST00000681430.1:c.504_517del ENSP00000506301.1:p.Asp168GlufsTer10
ENST00000681446.1:c.*86_*99del ENSP00000506244.1:n.*86_*99del
ENST00000681450.1:c.*175_*188del ENSP00000505660.1:n.*175_*188del
ENST00000681548.1:c.*90_*103del ENSP00000505275.1:n.*90_*103del
ENST00000681616.1:c.*272_*285del ENSP00000505111.1:n.*272_*285del
ENST00000681621.1:c.*88_*101del ENSP00000505770.1:n.*88_*101del
ENST00000681680.1:n.2628_2641del
ENST00000681720.1:c.*55-5791_*55-5778del ENSP00000505438.1:n.*55-5791_*55-5778del
ENST00000681730.1:n.726_739del
ENST00000681790.1:c.246_259del ENSP00000505130.1:p.Asp82GlufsTer10
ENST00000681837.1:n.1120_1133del
ENST00000681913.1:n.2628_2641del
ENST00000681916.1:c.*272_*285del ENSP00000506477.1:n.*272_*285del
ENST00000681930.1:n.2628_2641del
ENST00000370834.9:c.603_616del ENSP00000359871.5:p.Asp201GlufsTer10
ENST00000370841.8:c.504_517del ENSP00000359878.4:p.Asp168GlufsTer10
ENST00000420607.6:c.516_529del ENSP00000409612.2:p.Asp172GlufsTer10
ENST00000525808.5:c.*90_*103del ENSP00000434823.1:n.*90_*103del
ENST00000526129.5:c.*288_*301del ENSP00000434092.1:n.*288_*301del
ENST00000526196.5:c.*272_*285del ENSP00000431953.1:n.*272_*285del
ENST00000526930.1:n.277_290del
ENST00000529059.5:n.413_426del
ENST00000530953.6:c.*1_*14del ENSP00000431372.1:n.*1_*14del
ENST00000532509.5:c.*268_*281del ENSP00000432522.1:n.*268_*281del
ENST00000534334.5:c.*88_*101del ENSP00000435584.1:n.*88_*101del
ENST00000541113.5:c.396_409del ENSP00000442324.1:p.Asp132GlufsTer10
NM_000016.5:c.504_517del NP_000007.1:p.Asp168GlufsTer10
NM_001127328.2:c.516_529del NP_001120800.1:p.Asp172GlufsTer10
NM_001286042.1:c.396_409del NP_001272971.1:p.Asp132GlufsTer10
NM_001286043.1:c.603_616del NP_001272972.1:p.Asp201GlufsTer10
NM_001286044.1:c.-64_-51del NP_001272973.1:n.-64_-51del
NM_000016.6:c.504_517del MANE Select NP_000007.1:p.Asp168GlufsTer10
NM_001127328.3:c.516_529del NP_001120800.1:p.Asp172GlufsTer10
NM_001286042.2:c.396_409del NP_001272971.1:p.Asp132GlufsTer10
NM_001286043.2:c.603_616del NP_001272972.1:p.Asp201GlufsTer10
NM_001286044.2:c.-64_-51del NP_001272973.1:n.-64_-51del