Canonical Allele Identifier: CA913077123
Gene: ACADM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75740017_75740035del , CM000663.2:g.75740017_75740035del GRCh38
NC_000001.10:g.76205702_76205720del , CM000663.1:g.76205702_76205720del GRCh37
NC_000001.9:g.75978290_75978308del NCBI36
NG_007045.2:g.20660_20678del

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.506_524del MANE Select ENSP00000359878.5:p.Val169GlufsTer18
ENST00000473018.3:n.2630_2648del
ENST00000541113.6:c.506_524del ENSP00000442324.2:p.Val169GlufsTer18
ENST00000679509.1:n.1468_1486del
ENST00000679530.1:c.*274_*292del ENSP00000506454.1:n.*274_*292del
ENST00000679615.1:n.2630_2648del
ENST00000679687.1:c.68_86del ENSP00000506598.1:p.Val23GlufsTer18
ENST00000679704.1:c.*272_*290del ENSP00000505117.1:n.*272_*290del
ENST00000679709.1:c.*469_*487del ENSP00000506623.1:n.*469_*487del
ENST00000679804.1:n.245_263del
ENST00000679976.1:c.*90_*108del ENSP00000505565.1:n.*90_*108del
ENST00000680166.1:n.3795_3813del
ENST00000680517.1:c.*3_*21del ENSP00000505803.1:n.*3_*21del
ENST00000680582.1:n.1468_1486del
ENST00000680613.1:c.506_524del ENSP00000506114.1:p.Val169GlufsTer18
ENST00000680662.1:c.*420_*438del ENSP00000505080.1:n.*420_*438del
ENST00000680691.1:c.*169_*187del ENSP00000506487.1:n.*169_*187del
ENST00000680694.1:c.*94_*112del ENSP00000505658.1:n.*94_*112del
ENST00000680743.1:c.*173_*191del ENSP00000505073.1:n.*173_*191del
ENST00000680749.1:c.506_524del ENSP00000505122.1:p.Val169GlufsTer18
ENST00000680798.1:c.*90_*108del ENSP00000505670.1:n.*90_*108del
ENST00000680805.1:c.506_524del ENSP00000505447.1:p.Val169GlufsTer18
ENST00000680844.1:c.*290_*308del ENSP00000506541.1:n.*290_*308del
ENST00000680948.1:c.*373_*391del ENSP00000505441.1:n.*373_*391del
ENST00000680964.1:c.506_524del ENSP00000505961.1:p.Val169GlufsTer18
ENST00000681037.1:c.506_524del ENSP00000506025.1:p.Val169GlufsTer18
ENST00000681063.1:c.506_524del ENSP00000506616.1:p.Val169GlufsTer18
ENST00000681209.1:c.*270_*288del ENSP00000505877.1:n.*270_*288del
ENST00000681278.1:n.863_881del
ENST00000681289.1:n.863_881del
ENST00000681361.1:c.*173_*191del ENSP00000506679.1:n.*173_*191del
ENST00000681430.1:c.506_524del ENSP00000506301.1:p.Val169GlufsTer18
ENST00000681446.1:c.*88_*106del ENSP00000506244.1:n.*88_*106del
ENST00000681450.1:c.*177_*195del ENSP00000505660.1:n.*177_*195del
ENST00000681548.1:c.*92_*110del ENSP00000505275.1:n.*92_*110del
ENST00000681616.1:c.*274_*292del ENSP00000505111.1:n.*274_*292del
ENST00000681621.1:c.*90_*108del ENSP00000505770.1:n.*90_*108del
ENST00000681680.1:n.2630_2648del
ENST00000681720.1:c.*55-5789_*55-5771del ENSP00000505438.1:n.*55-5789_*55-5771del
ENST00000681730.1:n.728_746del
ENST00000681790.1:c.248_266del ENSP00000505130.1:p.Val83GlufsTer18
ENST00000681837.1:n.1122_1140del
ENST00000681913.1:n.2630_2648del
ENST00000681916.1:c.*274_*292del ENSP00000506477.1:n.*274_*292del
ENST00000681930.1:n.2630_2648del
ENST00000370834.9:c.605_623del ENSP00000359871.5:p.Val202GlufsTer18
ENST00000370841.8:c.506_524del ENSP00000359878.4:p.Val169GlufsTer18
ENST00000420607.6:c.518_536del ENSP00000409612.2:p.Val173GlufsTer18
ENST00000525808.5:c.*92_*110del ENSP00000434823.1:n.*92_*110del
ENST00000526129.5:c.*290_*308del ENSP00000434092.1:n.*290_*308del
ENST00000526196.5:c.*274_*292del ENSP00000431953.1:n.*274_*292del
ENST00000526930.1:n.279_297del
ENST00000529059.5:n.415_433del
ENST00000530953.6:c.*3_*21del ENSP00000431372.1:n.*3_*21del
ENST00000532509.5:c.*270_*288del ENSP00000432522.1:n.*270_*288del
ENST00000534334.5:c.*90_*108del ENSP00000435584.1:n.*90_*108del
ENST00000541113.5:c.398_416del ENSP00000442324.1:p.Val133GlufsTer18
NM_000016.5:c.506_524del NP_000007.1:p.Val169GlufsTer18
NM_001127328.2:c.518_536del NP_001120800.1:p.Val173GlufsTer18
NM_001286042.1:c.398_416del NP_001272971.1:p.Val133GlufsTer18
NM_001286043.1:c.605_623del NP_001272972.1:p.Val202GlufsTer18
NM_001286044.1:c.-62_-44del NP_001272973.1:n.-62_-44del
NM_000016.6:c.506_524del MANE Select NP_000007.1:p.Val169GlufsTer18
NM_001127328.3:c.518_536del NP_001120800.1:p.Val173GlufsTer18
NM_001286042.2:c.398_416del NP_001272971.1:p.Val133GlufsTer18
NM_001286043.2:c.605_623del NP_001272972.1:p.Val202GlufsTer18
NM_001286044.2:c.-62_-44del NP_001272973.1:n.-62_-44del