Canonical Allele Identifier: CA2695198050
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 2679967
ClinVar RCV Id: RCV003465030

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75745814dup , CM000663.2:g.75745814dup GRCh38
NC_000001.10:g.76211499dup , CM000663.1:g.76211499dup GRCh37
NC_000001.9:g.75984087dup NCBI36
NG_007045.2:g.26457dup

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.608dup MANE Select ENSP00000359878.5:p.Leu203PhefsTer6
ENST00000473018.3:n.2732dup
ENST00000532207.6:n.1497dup
ENST00000541113.6:c.608dup ENSP00000442324.2:p.Leu203PhefsTer6
ENST00000679509.1:n.1570dup
ENST00000679530.1:c.*376dup ENSP00000506454.1:n.*376dup
ENST00000679615.1:n.2724-3605dup
ENST00000679687.1:c.170dup ENSP00000506598.1:p.Leu57PhefsTer6
ENST00000679704.1:c.*374dup ENSP00000505117.1:n.*374dup
ENST00000679709.1:c.*571dup ENSP00000506623.1:n.*571dup
ENST00000679976.1:c.*192dup ENSP00000505565.1:n.*192dup
ENST00000680166.1:n.3897dup
ENST00000680517.1:c.*97-3605dup ENSP00000505803.1:n.*97-3605dup
ENST00000680582.1:n.1570dup
ENST00000680613.1:c.600-21dup ENSP00000506114.1:n.600-21dup
ENST00000680662.1:c.*522dup ENSP00000505080.1:n.*522dup
ENST00000680691.1:c.*271dup ENSP00000506487.1:n.*271dup
ENST00000680694.1:c.*196dup ENSP00000505658.1:n.*196dup
ENST00000680743.1:c.*275dup ENSP00000505073.1:n.*275dup
ENST00000680749.1:c.600-3605dup ENSP00000505122.1:n.600-3605dup
ENST00000680798.1:c.*184-3605dup ENSP00000505670.1:n.*184-3605dup
ENST00000680805.1:c.608dup ENSP00000505447.1:p.Leu203PhefsTer6
ENST00000680844.1:c.*392dup ENSP00000506541.1:n.*392dup
ENST00000680948.1:c.*475dup ENSP00000505441.1:n.*475dup
ENST00000680964.1:c.608dup ENSP00000505961.1:p.Leu203PhefsTer6
ENST00000681037.1:c.*2113-21dup ENSP00000506025.1:n.*2113-21dup
ENST00000681063.1:c.600-4637dup ENSP00000506616.1:n.600-4637dup
ENST00000681209.1:c.*364-3605dup ENSP00000505877.1:n.*364-3605dup
ENST00000681278.1:n.965dup
ENST00000681289.1:n.4603dup
ENST00000681361.1:c.*275dup ENSP00000506679.1:n.*275dup
ENST00000681430.1:c.608dup ENSP00000506301.1:p.Leu203PhefsTer6
ENST00000681446.1:c.*190dup ENSP00000506244.1:n.*190dup
ENST00000681450.1:c.*279dup ENSP00000505660.1:n.*279dup
ENST00000681548.1:c.*194dup ENSP00000505275.1:n.*194dup
ENST00000681616.1:c.*368-3605dup ENSP00000505111.1:n.*368-3605dup
ENST00000681621.1:c.*192dup ENSP00000505770.1:n.*192dup
ENST00000681680.1:n.2724-21dup
ENST00000681720.1:c.*63dup ENSP00000505438.1:n.*63dup
ENST00000681730.1:n.830dup
ENST00000681790.1:c.350dup ENSP00000505130.1:p.Leu117PhefsTer6
ENST00000681837.1:n.1224dup
ENST00000681913.1:n.2732dup
ENST00000681916.1:c.*376dup ENSP00000506477.1:n.*376dup
ENST00000681930.1:n.2732dup
ENST00000370834.9:c.707dup ENSP00000359871.5:p.Leu236PhefsTer6
ENST00000370841.8:c.608dup ENSP00000359878.4:p.Leu203PhefsTer6
ENST00000420607.6:c.620dup ENSP00000409612.2:p.Leu207PhefsTer6
ENST00000525808.5:c.*194dup ENSP00000434823.1:n.*194dup
ENST00000526129.5:c.*392dup ENSP00000434092.1:n.*392dup
ENST00000526196.5:c.*376dup ENSP00000431953.1:n.*376dup
ENST00000526930.1:n.381dup
ENST00000529059.5:n.517dup
ENST00000530953.6:c.*105dup ENSP00000431372.1:n.*105dup
ENST00000532207.5:n.338dup
ENST00000532509.5:c.*372dup ENSP00000432522.1:n.*372dup
ENST00000534334.5:c.*192dup ENSP00000435584.1:n.*192dup
ENST00000541113.5:c.500dup ENSP00000442324.1:p.Leu167PhefsTer6
NM_000016.5:c.608dup NP_000007.1:p.Leu203PhefsTer6
NM_001127328.2:c.620dup NP_001120800.1:p.Leu207PhefsTer6
NM_001286042.1:c.500dup NP_001272971.1:p.Leu167PhefsTer6
NM_001286043.1:c.707dup NP_001272972.1:p.Leu236PhefsTer6
NM_001286044.1:c.41dup NP_001272973.1:p.Leu14PhefsTer6
NM_000016.6:c.608dup MANE Select NP_000007.1:p.Leu203PhefsTer6
NM_001127328.3:c.620dup NP_001120800.1:p.Leu207PhefsTer6
NM_001286042.2:c.500dup NP_001272971.1:p.Leu167PhefsTer6
NM_001286043.2:c.707dup NP_001272972.1:p.Leu236PhefsTer6
NM_001286044.2:c.41dup NP_001272973.1:p.Leu14PhefsTer6