Canonical Allele Identifier: CA2580063251

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2002273
• ClinVar RCV Id: RCV002820277

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761230_75761233dup , CM000663.2:g.75761230_75761233dup	GRCh38
NC_000001.10:g.76226915_76226918dup , CM000663.1:g.76226915_76226918dup	GRCh37
NC_000001.9:g.75999503_75999506dup	NCBI36
NG_007045.2:g.41873_41876dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1054_1057dup MANE Select	ENSP00000359878.5:p.Tyr353LeufsTer20
ENST00000473018.3:n.3178_3181dup
ENST00000532207.6:n.2065_2068dup
ENST00000541113.6:c.958_961dup	ENSP00000442324.2:p.Tyr321LeufsTer20
ENST00000679509.1:n.2016_2019dup
ENST00000679530.1:c.*822_*825dup	ENSP00000506454.1:n.*822_*825dup
ENST00000679615.1:n.3069_3072dup
ENST00000679687.1:c.616_619dup	ENSP00000506598.1:p.Tyr207LeufsTer20
ENST00000679704.1:c.*820_*823dup	ENSP00000505117.1:n.*820_*823dup
ENST00000679709.1:c.*1017_*1020dup	ENSP00000506623.1:n.*1017_*1020dup
ENST00000679976.1:c.*638_*641dup	ENSP00000505565.1:n.*638_*641dup
ENST00000680166.1:n.4343_4346dup
ENST00000680315.1:n.937_940dup
ENST00000680517.1:c.*442_*445dup	ENSP00000505803.1:n.*442_*445dup
ENST00000680582.1:n.2016_2019dup
ENST00000680613.1:c.*547_*550dup	ENSP00000506114.1:n.*547_*550dup
ENST00000680662.1:c.*968_*971dup	ENSP00000505080.1:n.*968_*971dup
ENST00000680691.1:c.*717_*720dup	ENSP00000506487.1:n.*717_*720dup
ENST00000680694.1:c.*642_*645dup	ENSP00000505658.1:n.*642_*645dup
ENST00000680743.1:c.*843_*846dup	ENSP00000505073.1:n.*843_*846dup
ENST00000680749.1:c.*339_*342dup	ENSP00000505122.1:n.*339_*342dup
ENST00000680798.1:c.*529_*532dup	ENSP00000505670.1:n.*529_*532dup
ENST00000680805.1:c.913_916dup	ENSP00000505447.1:p.Tyr306LeufsTer20
ENST00000680844.1:c.*838_*841dup	ENSP00000506541.1:n.*838_*841dup
ENST00000680948.1:c.*921_*924dup	ENSP00000505441.1:n.*921_*924dup
ENST00000680964.1:c.*147_*150dup	ENSP00000505961.1:n.*147_*150dup
ENST00000681037.1:c.*2538_*2541dup	ENSP00000506025.1:n.*2538_*2541dup
ENST00000681063.1:c.*323_*326dup	ENSP00000506616.1:n.*323_*326dup
ENST00000681209.1:c.*709_*712dup	ENSP00000505877.1:n.*709_*712dup
ENST00000681278.1:n.1756_1759dup
ENST00000681289.1:n.5049_5052dup
ENST00000681361.1:c.*721_*724dup	ENSP00000506679.1:n.*721_*724dup
ENST00000681430.1:c.*147_*150dup	ENSP00000506301.1:n.*147_*150dup
ENST00000681446.1:c.*758_*761dup	ENSP00000506244.1:n.*758_*761dup
ENST00000681450.1:c.*725_*728dup	ENSP00000505660.1:n.*725_*728dup
ENST00000681548.1:c.*640_*643dup	ENSP00000505275.1:n.*640_*643dup
ENST00000681616.1:c.*713_*716dup	ENSP00000505111.1:n.*713_*716dup
ENST00000681621.1:c.*638_*641dup	ENSP00000505770.1:n.*638_*641dup
ENST00000681680.1:n.3149_3152dup
ENST00000681720.1:c.*509_*512dup	ENSP00000505438.1:n.*509_*512dup
ENST00000681730.1:n.1276_1279dup
ENST00000681790.1:c.796_799dup	ENSP00000505130.1:p.Tyr267LeufsTer20
ENST00000681837.1:n.1670_1673dup
ENST00000681913.1:n.3300_3303dup
ENST00000681916.1:c.*822_*825dup	ENSP00000506477.1:n.*822_*825dup
ENST00000681930.1:n.3178_3181dup
ENST00000370834.9:c.1153_1156dup	ENSP00000359871.5:p.Tyr386LeufsTer20
ENST00000370841.8:c.1054_1057dup	ENSP00000359878.4:p.Tyr353LeufsTer20
ENST00000420607.6:c.1066_1069dup	ENSP00000409612.2:p.Tyr357LeufsTer20
ENST00000481374.1:n.327_330dup
ENST00000525808.5:c.*640_*643dup	ENSP00000434823.1:n.*640_*643dup
ENST00000526129.5:c.*838_*841dup	ENSP00000434092.1:n.*838_*841dup
ENST00000526196.5:c.*822_*825dup	ENSP00000431953.1:n.*822_*825dup
ENST00000528016.1:c.160-7947_160-7944dup	ENSP00000434284.1:n.160-7947_160-7944dup
ENST00000529059.5:n.963_966dup
ENST00000534334.5:c.*795_*798dup	ENSP00000435584.1:n.*795_*798dup
ENST00000541113.5:c.946_949dup	ENSP00000442324.1:p.Tyr317LeufsTer20
NM_000016.5:c.1054_1057dup	NP_000007.1:p.Tyr353LeufsTer20
NM_001127328.2:c.1066_1069dup	NP_001120800.1:p.Tyr357LeufsTer20
NM_001286042.1:c.946_949dup	NP_001272971.1:p.Tyr317LeufsTer20
NM_001286043.1:c.1153_1156dup	NP_001272972.1:p.Tyr386LeufsTer20
NM_001286044.1:c.487_490dup	NP_001272973.1:p.Tyr164LeufsTer20
NM_000016.6:c.1054_1057dup MANE Select	NP_000007.1:p.Tyr353LeufsTer20
NM_001127328.3:c.1066_1069dup	NP_001120800.1:p.Tyr357LeufsTer20
NM_001286042.2:c.946_949dup	NP_001272971.1:p.Tyr317LeufsTer20
NM_001286043.2:c.1153_1156dup	NP_001272972.1:p.Tyr386LeufsTer20
NM_001286044.2:c.487_490dup	NP_001272973.1:p.Tyr164LeufsTer20