Canonical Allele Identifier: CA2739272619
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 2832726
ClinVar RCV Id: RCV003610494

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75762700_75762721del , CM000663.2:g.75762700_75762721del GRCh38
NC_000001.10:g.76228385_76228406del , CM000663.1:g.76228385_76228406del GRCh37
NC_000001.9:g.76000973_76000994del NCBI36
NG_007045.2:g.43343_43364del

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.1203_1224del MANE Select ENSP00000359878.5:p.Glu401AspfsTer4
ENST00000473018.3:n.3327_3348del
ENST00000532207.6:n.3535_3556del
ENST00000541113.6:c.1107_1128del ENSP00000442324.2:p.Glu369AspfsTer4
ENST00000679509.1:n.3486_3507del
ENST00000679530.1:c.*971_*992del ENSP00000506454.1:n.*971_*992del
ENST00000679615.1:n.4539_4560del
ENST00000679687.1:c.765_786del ENSP00000506598.1:p.Glu255AspfsTer4
ENST00000679704.1:c.*969_*990del ENSP00000505117.1:n.*969_*990del
ENST00000679709.1:c.*1166_*1187del ENSP00000506623.1:n.*1166_*1187del
ENST00000679976.1:c.*787_*808del ENSP00000505565.1:n.*787_*808del
ENST00000680166.1:n.4492_4513del
ENST00000680582.1:n.2165_2186del
ENST00000680613.1:c.*696_*717del ENSP00000506114.1:n.*696_*717del
ENST00000680662.1:c.*1117_*1138del ENSP00000505080.1:n.*1117_*1138del
ENST00000680691.1:c.*866_*887del ENSP00000506487.1:n.*866_*887del
ENST00000680694.1:c.*791_*812del ENSP00000505658.1:n.*791_*812del
ENST00000680743.1:c.*992_*1013del ENSP00000505073.1:n.*992_*1013del
ENST00000680749.1:c.*488_*509del ENSP00000505122.1:n.*488_*509del
ENST00000680798.1:c.*1999_*2020del ENSP00000505670.1:n.*1999_*2020del
ENST00000680805.1:c.1062_1083del ENSP00000505447.1:p.Glu354AspfsTer4
ENST00000680844.1:c.*2308_*2329del ENSP00000506541.1:n.*2308_*2329del
ENST00000680948.1:c.*1070_*1091del ENSP00000505441.1:n.*1070_*1091del
ENST00000680964.1:c.*1617_*1638del ENSP00000505961.1:n.*1617_*1638del
ENST00000681037.1:c.*2687_*2708del ENSP00000506025.1:n.*2687_*2708del
ENST00000681063.1:c.*472_*493del ENSP00000506616.1:n.*472_*493del
ENST00000681209.1:c.*858_*879del ENSP00000505877.1:n.*858_*879del
ENST00000681278.1:n.1905_1926del
ENST00000681289.1:n.5198_5219del
ENST00000681361.1:c.*2191_*2212del ENSP00000506679.1:n.*2191_*2212del
ENST00000681430.1:c.*296_*317del ENSP00000506301.1:n.*296_*317del
ENST00000681446.1:c.*2228_*2249del ENSP00000506244.1:n.*2228_*2249del
ENST00000681450.1:c.*874_*895del ENSP00000505660.1:n.*874_*895del
ENST00000681548.1:c.*2110_*2131del ENSP00000505275.1:n.*2110_*2131del
ENST00000681616.1:c.*2183_*2204del ENSP00000505111.1:n.*2183_*2204del
ENST00000681621.1:c.*2108_*2129del ENSP00000505770.1:n.*2108_*2129del
ENST00000681680.1:n.4619_4640del
ENST00000681720.1:c.*658_*679del ENSP00000505438.1:n.*658_*679del
ENST00000681730.1:n.1425_1446del
ENST00000681790.1:c.945_966del ENSP00000505130.1:p.Glu315AspfsTer4
ENST00000681837.1:n.3140_3161del
ENST00000681913.1:n.3449_3470del
ENST00000681916.1:c.*971_*992del ENSP00000506477.1:n.*971_*992del
ENST00000681930.1:n.4648_4669del
ENST00000370834.9:c.1302_1323del ENSP00000359871.5:p.Glu434AspfsTer4
ENST00000370841.8:c.1203_1224del ENSP00000359878.4:p.Glu401AspfsTer4
ENST00000420607.6:c.1215_1236del ENSP00000409612.2:p.Glu405AspfsTer4
ENST00000481374.1:n.468-593_468-572del
ENST00000525808.5:c.*789_*810del ENSP00000434823.1:n.*789_*810del
ENST00000526196.5:c.*971_*992del ENSP00000431953.1:n.*971_*992del
ENST00000528016.1:c.160-6477_160-6456del ENSP00000434284.1:n.160-6477_160-6456del
ENST00000529059.5:n.1112_1133del
ENST00000541113.5:c.1095_1116del ENSP00000442324.1:p.Glu365AspfsTer4
NM_000016.5:c.1203_1224del NP_000007.1:p.Glu401AspfsTer4
NM_001127328.2:c.1215_1236del NP_001120800.1:p.Glu405AspfsTer4
NM_001286042.1:c.1095_1116del NP_001272971.1:p.Glu365AspfsTer4
NM_001286043.1:c.1302_1323del NP_001272972.1:p.Glu434AspfsTer4
NM_001286044.1:c.636_657del NP_001272973.1:p.Glu212AspfsTer4
NM_000016.6:c.1203_1224del MANE Select NP_000007.1:p.Glu401AspfsTer4
NM_001127328.3:c.1215_1236del NP_001120800.1:p.Glu405AspfsTer4
NM_001286042.2:c.1095_1116del NP_001272971.1:p.Glu365AspfsTer4
NM_001286043.2:c.1302_1323del NP_001272972.1:p.Glu434AspfsTer4
NM_001286044.2:c.636_657del NP_001272973.1:p.Glu212AspfsTer4