Canonical Allele Identifier: CA658821083

Gene: ACADM

Linked Data

• ClinVar Variation Id: 555273
• ClinVar RCV Id: RCV000671063
• dbSNP Id: rs1553125264

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749536_75749538delinsCC , CM000663.2:g.75749536_75749538delinsCC	GRCh38
NC_000001.10:g.76215221_76215223delinsCC , CM000663.1:g.76215221_76215223delinsCC	GRCh37
NC_000001.9:g.75987809_75987811delinsCC	NCBI36
NG_007045.2:g.30179_30181delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.826_828delinsCC MANE Select	ENSP00000359878.5:p.Ala276ProfsTer8
ENST00000473018.3:n.2950_2952delinsCC
ENST00000532207.6:n.1715_1717delinsCC
ENST00000541113.6:c.826_828delinsCC	ENSP00000442324.2:p.Ala276ProfsTer21
ENST00000679509.1:n.1788_1790delinsCC
ENST00000679530.1:c.*594_*596delinsCC	ENSP00000506454.1:n.*594_*596delinsCC
ENST00000679615.1:n.2841_2843delinsCC
ENST00000679687.1:c.388_390delinsCC	ENSP00000506598.1:p.Ala130ProfsTer8
ENST00000679704.1:c.*592_*594delinsCC	ENSP00000505117.1:n.*592_*594delinsCC
ENST00000679709.1:c.*789_*791delinsCC	ENSP00000506623.1:n.*789_*791delinsCC
ENST00000679976.1:c.*410_*412delinsCC	ENSP00000505565.1:n.*410_*412delinsCC
ENST00000680166.1:n.4115_4117delinsCC
ENST00000680517.1:c.*214_*216delinsCC	ENSP00000505803.1:n.*214_*216delinsCC
ENST00000680582.1:n.1788_1790delinsCC
ENST00000680613.1:c.*197_*199delinsCC	ENSP00000506114.1:n.*197_*199delinsCC
ENST00000680662.1:c.*740_*742delinsCC	ENSP00000505080.1:n.*740_*742delinsCC
ENST00000680691.1:c.*489_*491delinsCC	ENSP00000506487.1:n.*489_*491delinsCC
ENST00000680694.1:c.*414_*416delinsCC	ENSP00000505658.1:n.*414_*416delinsCC
ENST00000680743.1:c.*493_*495delinsCC	ENSP00000505073.1:n.*493_*495delinsCC
ENST00000680749.1:c.*111_*113delinsCC	ENSP00000505122.1:n.*111_*113delinsCC
ENST00000680798.1:c.*301_*303delinsCC	ENSP00000505670.1:n.*301_*303delinsCC
ENST00000680805.1:c.709-915_709-913delinsCC	ENSP00000505447.1:n.709-915_709-913delins...
ENST00000680844.1:c.*610_*612delinsCC	ENSP00000506541.1:n.*610_*612delinsCC
ENST00000680948.1:c.*693_*695delinsCC	ENSP00000505441.1:n.*693_*695delinsCC
ENST00000680964.1:c.826_828delinsCC	ENSP00000505961.1:p.Ala276ProfsTer8
ENST00000681037.1:c.*2310_*2312delinsCC	ENSP00000506025.1:n.*2310_*2312delinsCC
ENST00000681063.1:c.600-915_600-913delinsCC	ENSP00000506616.1:n.600-915_600-913delins...
ENST00000681209.1:c.*481_*483delinsCC	ENSP00000505877.1:n.*481_*483delinsCC
ENST00000681278.1:n.1183_1185delinsCC
ENST00000681289.1:n.4821_4823delinsCC
ENST00000681361.1:c.*493_*495delinsCC	ENSP00000506679.1:n.*493_*495delinsCC
ENST00000681430.1:c.826_828delinsCC	ENSP00000506301.1:p.Ala276ProfsTer8
ENST00000681446.1:c.*408_*410delinsCC	ENSP00000506244.1:n.*408_*410delinsCC
ENST00000681450.1:c.*497_*499delinsCC	ENSP00000505660.1:n.*497_*499delinsCC
ENST00000681548.1:c.*412_*414delinsCC	ENSP00000505275.1:n.*412_*414delinsCC
ENST00000681616.1:c.*485_*487delinsCC	ENSP00000505111.1:n.*485_*487delinsCC
ENST00000681621.1:c.*410_*412delinsCC	ENSP00000505770.1:n.*410_*412delinsCC
ENST00000681680.1:n.2921_2923delinsCC
ENST00000681720.1:c.*281_*283delinsCC	ENSP00000505438.1:n.*281_*283delinsCC
ENST00000681730.1:n.1048_1050delinsCC
ENST00000681790.1:c.568_570delinsCC	ENSP00000505130.1:p.Ala190ProfsTer8
ENST00000681837.1:n.1442_1444delinsCC
ENST00000681913.1:n.2950_2952delinsCC
ENST00000681916.1:c.*594_*596delinsCC	ENSP00000506477.1:n.*594_*596delinsCC
ENST00000681930.1:n.2950_2952delinsCC
ENST00000370834.9:c.925_927delinsCC	ENSP00000359871.5:p.Ala309ProfsTer8
ENST00000370841.8:c.826_828delinsCC	ENSP00000359878.4:p.Ala276ProfsTer8
ENST00000420607.6:c.838_840delinsCC	ENSP00000409612.2:p.Ala280ProfsTer8
ENST00000525808.5:c.*412_*414delinsCC	ENSP00000434823.1:n.*412_*414delinsCC
ENST00000526129.5:c.*610_*612delinsCC	ENSP00000434092.1:n.*610_*612delinsCC
ENST00000526196.5:c.*594_*596delinsCC	ENSP00000431953.1:n.*594_*596delinsCC
ENST00000528016.1:c.40_42delinsCC	ENSP00000434284.1:p.Ala14ProfsTer8
ENST00000529059.5:n.735_737delinsCC
ENST00000530953.6:c.*323_*325delinsCC	ENSP00000431372.1:n.*323_*325delinsCC
ENST00000532207.5:n.556_558delinsCC
ENST00000532509.5:c.*590_*592delinsCC	ENSP00000432522.1:n.*590_*592delinsCC
ENST00000534334.5:c.*410_*412delinsCC	ENSP00000435584.1:n.*410_*412delinsCC
ENST00000541113.5:c.718_720delinsCC	ENSP00000442324.1:p.Ala240ProfsTer8
NM_000016.5:c.826_828delinsCC	NP_000007.1:p.Ala276ProfsTer8
NM_001127328.2:c.838_840delinsCC	NP_001120800.1:p.Ala280ProfsTer8
NM_001286042.1:c.718_720delinsCC	NP_001272971.1:p.Ala240ProfsTer8
NM_001286043.1:c.925_927delinsCC	NP_001272972.1:p.Ala309ProfsTer8
NM_001286044.1:c.259_261delinsCC	NP_001272973.1:p.Ala87ProfsTer8
NM_000016.6:c.826_828delinsCC MANE Select	NP_000007.1:p.Ala276ProfsTer8
NM_001127328.3:c.838_840delinsCC	NP_001120800.1:p.Ala280ProfsTer8
NM_001286042.2:c.718_720delinsCC	NP_001272971.1:p.Ala240ProfsTer8
NM_001286043.2:c.925_927delinsCC	NP_001272972.1:p.Ala309ProfsTer8
NM_001286044.2:c.259_261delinsCC	NP_001272973.1:p.Ala87ProfsTer8