Canonical Allele Identifier: CA16040785
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 371613
ClinVar RCV Id: RCV000411393
dbSNP Id: rs1057517411

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75761249del , CM000663.2:g.75761249del GRCh38
NC_000001.10:g.76226934del , CM000663.1:g.76226934del GRCh37
NC_000001.9:g.75999522del NCBI36
NG_007045.2:g.41892del

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.1073del MANE Select ENSP00000359878.5:p.Lys358ArgfsTer11
ENST00000473018.3:n.3197del
ENST00000532207.6:n.2084del
ENST00000541113.6:c.977del ENSP00000442324.2:p.Lys326ArgfsTer11
ENST00000679509.1:n.2035del
ENST00000679530.1:c.*841del ENSP00000506454.1:n.*841del
ENST00000679615.1:n.3088del
ENST00000679687.1:c.635del ENSP00000506598.1:p.Lys212ArgfsTer11
ENST00000679704.1:c.*839del ENSP00000505117.1:n.*839del
ENST00000679709.1:c.*1036del ENSP00000506623.1:n.*1036del
ENST00000679976.1:c.*657del ENSP00000505565.1:n.*657del
ENST00000680166.1:n.4362del
ENST00000680315.1:n.956del
ENST00000680517.1:c.*461del ENSP00000505803.1:n.*461del
ENST00000680582.1:n.2035del
ENST00000680613.1:c.*566del ENSP00000506114.1:n.*566del
ENST00000680662.1:c.*987del ENSP00000505080.1:n.*987del
ENST00000680691.1:c.*736del ENSP00000506487.1:n.*736del
ENST00000680694.1:c.*661del ENSP00000505658.1:n.*661del
ENST00000680743.1:c.*862del ENSP00000505073.1:n.*862del
ENST00000680749.1:c.*358del ENSP00000505122.1:n.*358del
ENST00000680798.1:c.*548del ENSP00000505670.1:n.*548del
ENST00000680805.1:c.932del ENSP00000505447.1:p.Lys311ArgfsTer11
ENST00000680844.1:c.*857del ENSP00000506541.1:n.*857del
ENST00000680948.1:c.*940del ENSP00000505441.1:n.*940del
ENST00000680964.1:c.*166del ENSP00000505961.1:n.*166del
ENST00000681037.1:c.*2557del ENSP00000506025.1:n.*2557del
ENST00000681063.1:c.*342del ENSP00000506616.1:n.*342del
ENST00000681209.1:c.*728del ENSP00000505877.1:n.*728del
ENST00000681278.1:n.1775del
ENST00000681289.1:n.5068del
ENST00000681361.1:c.*740del ENSP00000506679.1:n.*740del
ENST00000681430.1:c.*166del ENSP00000506301.1:n.*166del
ENST00000681446.1:c.*777del ENSP00000506244.1:n.*777del
ENST00000681450.1:c.*744del ENSP00000505660.1:n.*744del
ENST00000681548.1:c.*659del ENSP00000505275.1:n.*659del
ENST00000681616.1:c.*732del ENSP00000505111.1:n.*732del
ENST00000681621.1:c.*657del ENSP00000505770.1:n.*657del
ENST00000681680.1:n.3168del
ENST00000681720.1:c.*528del ENSP00000505438.1:n.*528del
ENST00000681730.1:n.1295del
ENST00000681790.1:c.815del ENSP00000505130.1:p.Lys272ArgfsTer11
ENST00000681837.1:n.1689del
ENST00000681913.1:n.3319del
ENST00000681916.1:c.*841del ENSP00000506477.1:n.*841del
ENST00000681930.1:n.3197del
ENST00000370834.9:c.1172del ENSP00000359871.5:p.Lys391ArgfsTer11
ENST00000370841.8:c.1073del ENSP00000359878.4:p.Lys358ArgfsTer11
ENST00000420607.6:c.1085del ENSP00000409612.2:p.Lys362ArgfsTer11
ENST00000481374.1:n.346del
ENST00000525808.5:c.*659del ENSP00000434823.1:n.*659del
ENST00000526129.5:c.*857del ENSP00000434092.1:n.*857del
ENST00000526196.5:c.*841del ENSP00000431953.1:n.*841del
ENST00000528016.1:c.160-7928del ENSP00000434284.1:n.160-7928del
ENST00000529059.5:n.982del
ENST00000541113.5:c.965del ENSP00000442324.1:p.Lys322ArgfsTer11
NM_000016.5:c.1073del NP_000007.1:p.Lys358ArgfsTer11
NM_001127328.2:c.1085del NP_001120800.1:p.Lys362ArgfsTer11
NM_001286042.1:c.965del NP_001272971.1:p.Lys322ArgfsTer11
NM_001286043.1:c.1172del NP_001272972.1:p.Lys391ArgfsTer11
NM_001286044.1:c.506del NP_001272973.1:p.Lys169ArgfsTer11
NM_000016.6:c.1073del MANE Select NP_000007.1:p.Lys358ArgfsTer11
NM_001127328.3:c.1085del NP_001120800.1:p.Lys362ArgfsTer11
NM_001286042.2:c.965del NP_001272971.1:p.Lys322ArgfsTer11
NM_001286043.2:c.1172del NP_001272972.1:p.Lys391ArgfsTer11
NM_001286044.2:c.506del NP_001272973.1:p.Lys169ArgfsTer11