Canonical Allele Identifier: CA16040779
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 371546
ClinVar RCV Id: RCV000409112 RCV000498380
dbSNP Id: rs1057517356
gnomAD v4: 1-75734832-GAAGT-G
MyVariant Identifiers: chr1:g.76200519_76200522del (hg19) chr1:g.75734834_75734837del (hg38)
PubMed: PMID:15171998 PMID:24294134
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75734834_75734837del , CM000663.2:g.75734834_75734837del GRCh38
NC_000001.10:g.76200519_76200522del , CM000663.1:g.76200519_76200522del GRCh37
NC_000001.9:g.75973107_75973110del NCBI36
NG_007045.2:g.15477_15480del

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.431_434del MANE Select ENSP00000359878.5:p.Lys144IlefsTer5
ENST00000473018.3:n.2555_2558del
ENST00000525881.6:n.1393_1396del
ENST00000541113.6:c.431_434del ENSP00000442324.2:p.Lys144IlefsTer5
ENST00000679509.1:n.1393_1396del
ENST00000679530.1:c.*199_*202del ENSP00000506454.1:n.*199_*202del
ENST00000679615.1:n.2555_2558del
ENST00000679687.1:c.31-5146_31-5143del ENSP00000506598.1:n.31-5146_31-5143del
ENST00000679704.1:c.*197_*200del ENSP00000505117.1:n.*197_*200del
ENST00000679709.1:c.*394_*397del ENSP00000506623.1:n.*394_*397del
ENST00000679804.1:n.207+1912_207+1915del
ENST00000679976.1:c.*15_*18del ENSP00000505565.1:n.*15_*18del
ENST00000680166.1:n.3720_3723del
ENST00000680517.1:c.286+1912_286+1915del ENSP00000505803.1:n.286+1912_286+1915del
ENST00000680582.1:n.1393_1396del
ENST00000680613.1:c.431_434del ENSP00000506114.1:p.Lys144IlefsTer5
ENST00000680662.1:c.*345_*348del ENSP00000505080.1:n.*345_*348del
ENST00000680691.1:c.*94_*97del ENSP00000506487.1:n.*94_*97del
ENST00000680694.1:c.*15_*18del ENSP00000505658.1:n.*15_*18del
ENST00000680743.1:c.*98_*101del ENSP00000505073.1:n.*98_*101del
ENST00000680749.1:c.431_434del ENSP00000505122.1:p.Lys144IlefsTer5
ENST00000680798.1:c.*15_*18del ENSP00000505670.1:n.*15_*18del
ENST00000680805.1:c.431_434del ENSP00000505447.1:p.Lys144IlefsTer5
ENST00000680844.1:c.*215_*218del ENSP00000506541.1:n.*215_*218del
ENST00000680948.1:c.*298_*301del ENSP00000505441.1:n.*298_*301del
ENST00000680964.1:c.431_434del ENSP00000505961.1:p.Lys144IlefsTer5
ENST00000681037.1:c.431_434del ENSP00000506025.1:p.Lys144IlefsTer5
ENST00000681063.1:c.431_434del ENSP00000506616.1:p.Lys144IlefsTer5
ENST00000681209.1:c.*195_*198del ENSP00000505877.1:n.*195_*198del
ENST00000681278.1:n.788_791del
ENST00000681289.1:n.788_791del
ENST00000681361.1:c.*98_*101del ENSP00000506679.1:n.*98_*101del
ENST00000681430.1:c.431_434del ENSP00000506301.1:p.Lys144IlefsTer5
ENST00000681446.1:c.*15_*18del ENSP00000506244.1:n.*15_*18del
ENST00000681450.1:c.*98_*101del ENSP00000505660.1:n.*98_*101del
ENST00000681548.1:c.*54+1912_*54+1915del ENSP00000505275.1:n.*54+1912_*54+1915del
ENST00000681616.1:c.*199_*202del ENSP00000505111.1:n.*199_*202del
ENST00000681621.1:c.*15_*18del ENSP00000505770.1:n.*15_*18del
ENST00000681680.1:n.2555_2558del
ENST00000681720.1:c.*54+1912_*54+1915del ENSP00000505438.1:n.*54+1912_*54+1915del
ENST00000681730.1:n.653_656del
ENST00000681790.1:c.173_176del ENSP00000505130.1:p.Lys58IlefsTer5
ENST00000681837.1:n.1047_1050del
ENST00000681913.1:n.2555_2558del
ENST00000681916.1:c.*199_*202del ENSP00000506477.1:n.*199_*202del
ENST00000681930.1:n.2555_2558del
ENST00000370834.9:c.530_533del ENSP00000359871.5:p.Lys177IlefsTer5
ENST00000370841.8:c.431_434del ENSP00000359878.4:p.Lys144IlefsTer5
ENST00000420607.6:c.443_446del ENSP00000409612.2:p.Lys148IlefsTer5
ENST00000525808.5:c.*54+1912_*54+1915del ENSP00000434823.1:n.*54+1912_*54+1915del
ENST00000526129.5:c.*215_*218del ENSP00000434092.1:n.*215_*218del
ENST00000526196.5:c.*199_*202del ENSP00000431953.1:n.*199_*202del
ENST00000526930.1:n.204_207del
ENST00000529059.5:n.340_343del
ENST00000530953.6:c.119-5146_119-5143del ENSP00000431372.1:n.119-5146_119-5143del
ENST00000532509.5:c.*195_*198del ENSP00000432522.1:n.*195_*198del
ENST00000534334.5:c.*15_*18del ENSP00000435584.1:n.*15_*18del
ENST00000541113.5:c.323_326del ENSP00000442324.1:p.Lys108IlefsTer5
NM_000016.5:c.431_434del NP_000007.1:p.Lys144IlefsTer5
NM_001127328.2:c.443_446del NP_001120800.1:p.Lys148IlefsTer5
NM_001286042.1:c.323_326del NP_001272971.1:p.Lys108IlefsTer5
NM_001286043.1:c.530_533del NP_001272972.1:p.Lys177IlefsTer5
NM_001286044.1:c.-100+1912_-100+1915del NP_001272973.1:n.-100+1912_-100+1915del
NM_000016.6:c.431_434del MANE Select NP_000007.1:p.Lys144IlefsTer5
NM_001127328.3:c.443_446del NP_001120800.1:p.Lys148IlefsTer5
NM_001286042.2:c.323_326del NP_001272971.1:p.Lys108IlefsTer5
NM_001286043.2:c.530_533del NP_001272972.1:p.Lys177IlefsTer5
NM_001286044.2:c.-100+1912_-100+1915del NP_001272973.1:n.-100+1912_-100+1915del
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