Canonical Allele Identifier: CA2573132606

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1453591
• ClinVar RCV Id: RCV001994849
• dbSNP Id: rs2100417454

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749451_75749452dup , CM000663.2:g.75749451_75749452dup	GRCh38
NC_000001.10:g.76215136_76215137dup , CM000663.1:g.76215136_76215137dup	GRCh37
NC_000001.9:g.75987724_75987725dup	NCBI36
NG_007045.2:g.30094_30095dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.741_742dup MANE Select	ENSP00000359878.5:p.Arg248IlefsTer9
ENST00000473018.3:n.2865_2866dup
ENST00000532207.6:n.1630_1631dup
ENST00000541113.6:c.741_742dup	ENSP00000442324.2:p.Arg248IlefsTer9
ENST00000679509.1:n.1703_1704dup
ENST00000679530.1:c.*509_*510dup	ENSP00000506454.1:n.*509_*510dup
ENST00000679615.1:n.2756_2757dup
ENST00000679687.1:c.303_304dup	ENSP00000506598.1:p.Arg102IlefsTer9
ENST00000679704.1:c.*507_*508dup	ENSP00000505117.1:n.*507_*508dup
ENST00000679709.1:c.*704_*705dup	ENSP00000506623.1:n.*704_*705dup
ENST00000679976.1:c.*325_*326dup	ENSP00000505565.1:n.*325_*326dup
ENST00000680166.1:n.4030_4031dup
ENST00000680517.1:c.*129_*130dup	ENSP00000505803.1:n.*129_*130dup
ENST00000680582.1:n.1703_1704dup
ENST00000680613.1:c.*112_*113dup	ENSP00000506114.1:n.*112_*113dup
ENST00000680662.1:c.*655_*656dup	ENSP00000505080.1:n.*655_*656dup
ENST00000680691.1:c.*404_*405dup	ENSP00000506487.1:n.*404_*405dup
ENST00000680694.1:c.*329_*330dup	ENSP00000505658.1:n.*329_*330dup
ENST00000680743.1:c.*408_*409dup	ENSP00000505073.1:n.*408_*409dup
ENST00000680749.1:c.*26_*27dup	ENSP00000505122.1:n.*26_*27dup
ENST00000680798.1:c.*216_*217dup	ENSP00000505670.1:n.*216_*217dup
ENST00000680805.1:c.709-1000_709-999dup	ENSP00000505447.1:n.709-1000_709-999dup
ENST00000680844.1:c.*525_*526dup	ENSP00000506541.1:n.*525_*526dup
ENST00000680948.1:c.*608_*609dup	ENSP00000505441.1:n.*608_*609dup
ENST00000680964.1:c.741_742dup	ENSP00000505961.1:p.Arg248IlefsTer9
ENST00000681037.1:c.*2225_*2226dup	ENSP00000506025.1:n.*2225_*2226dup
ENST00000681063.1:c.600-1000_600-999dup	ENSP00000506616.1:n.600-1000_600-999dup
ENST00000681209.1:c.*396_*397dup	ENSP00000505877.1:n.*396_*397dup
ENST00000681278.1:n.1098_1099dup
ENST00000681289.1:n.4736_4737dup
ENST00000681361.1:c.*408_*409dup	ENSP00000506679.1:n.*408_*409dup
ENST00000681430.1:c.741_742dup	ENSP00000506301.1:p.Arg248IlefsTer9
ENST00000681446.1:c.*323_*324dup	ENSP00000506244.1:n.*323_*324dup
ENST00000681450.1:c.*412_*413dup	ENSP00000505660.1:n.*412_*413dup
ENST00000681548.1:c.*327_*328dup	ENSP00000505275.1:n.*327_*328dup
ENST00000681616.1:c.*400_*401dup	ENSP00000505111.1:n.*400_*401dup
ENST00000681621.1:c.*325_*326dup	ENSP00000505770.1:n.*325_*326dup
ENST00000681680.1:n.2836_2837dup
ENST00000681720.1:c.*196_*197dup	ENSP00000505438.1:n.*196_*197dup
ENST00000681730.1:n.963_964dup
ENST00000681790.1:c.483_484dup	ENSP00000505130.1:p.Arg162IlefsTer9
ENST00000681837.1:n.1357_1358dup
ENST00000681913.1:n.2865_2866dup
ENST00000681916.1:c.*509_*510dup	ENSP00000506477.1:n.*509_*510dup
ENST00000681930.1:n.2865_2866dup
ENST00000370834.9:c.840_841dup	ENSP00000359871.5:p.Arg281IlefsTer9
ENST00000370841.8:c.741_742dup	ENSP00000359878.4:p.Arg248IlefsTer9
ENST00000420607.6:c.753_754dup	ENSP00000409612.2:p.Arg252IlefsTer9
ENST00000525808.5:c.*327_*328dup	ENSP00000434823.1:n.*327_*328dup
ENST00000526129.5:c.*525_*526dup	ENSP00000434092.1:n.*525_*526dup
ENST00000526196.5:c.*509_*510dup	ENSP00000431953.1:n.*509_*510dup
ENST00000526930.1:n.514_515dup
ENST00000529059.5:n.650_651dup
ENST00000530953.6:c.*238_*239dup	ENSP00000431372.1:n.*238_*239dup
ENST00000532207.5:n.471_472dup
ENST00000532509.5:c.*505_*506dup	ENSP00000432522.1:n.*505_*506dup
ENST00000534334.5:c.*325_*326dup	ENSP00000435584.1:n.*325_*326dup
ENST00000541113.5:c.633_634dup	ENSP00000442324.1:p.Arg212IlefsTer9
NM_000016.5:c.741_742dup	NP_000007.1:p.Arg248IlefsTer9
NM_001127328.2:c.753_754dup	NP_001120800.1:p.Arg252IlefsTer9
NM_001286042.1:c.633_634dup	NP_001272971.1:p.Arg212IlefsTer9
NM_001286043.1:c.840_841dup	NP_001272972.1:p.Arg281IlefsTer9
NM_001286044.1:c.174_175dup	NP_001272973.1:p.Arg59IlefsTer9
NM_000016.6:c.741_742dup MANE Select	NP_000007.1:p.Arg248IlefsTer9
NM_001127328.3:c.753_754dup	NP_001120800.1:p.Arg252IlefsTer9
NM_001286042.2:c.633_634dup	NP_001272971.1:p.Arg212IlefsTer9
NM_001286043.2:c.840_841dup	NP_001272972.1:p.Arg281IlefsTer9
NM_001286044.2:c.174_175dup	NP_001272973.1:p.Arg59IlefsTer9