Canonical Allele Identifier: CA2573132609
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 1458793
ClinVar RCV Id: RCV001956559
dbSNP Id: rs2100452990

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75761198_75761205del , CM000663.2:g.75761198_75761205del GRCh38
NC_000001.10:g.76226883_76226890del , CM000663.1:g.76226883_76226890del GRCh37
NC_000001.9:g.75999471_75999478del NCBI36
NG_007045.2:g.41841_41848del

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.1022_1029del MANE Select ENSP00000359878.5:p.Ala341GlyfsTer2
ENST00000473018.3:n.3146_3153del
ENST00000532207.6:n.2033_2040del
ENST00000541113.6:c.926_933del ENSP00000442324.2:p.Ala309GlyfsTer2
ENST00000679509.1:n.1984_1991del
ENST00000679530.1:c.*790_*797del ENSP00000506454.1:n.*790_*797del
ENST00000679615.1:n.3037_3044del
ENST00000679687.1:c.584_591del ENSP00000506598.1:p.Ala195GlyfsTer2
ENST00000679704.1:c.*788_*795del ENSP00000505117.1:n.*788_*795del
ENST00000679709.1:c.*985_*992del ENSP00000506623.1:n.*985_*992del
ENST00000679976.1:c.*606_*613del ENSP00000505565.1:n.*606_*613del
ENST00000680166.1:n.4311_4318del
ENST00000680315.1:n.905_912del
ENST00000680517.1:c.*410_*417del ENSP00000505803.1:n.*410_*417del
ENST00000680582.1:n.1984_1991del
ENST00000680613.1:c.*515_*522del ENSP00000506114.1:n.*515_*522del
ENST00000680662.1:c.*936_*943del ENSP00000505080.1:n.*936_*943del
ENST00000680691.1:c.*685_*692del ENSP00000506487.1:n.*685_*692del
ENST00000680694.1:c.*610_*617del ENSP00000505658.1:n.*610_*617del
ENST00000680743.1:c.*811_*818del ENSP00000505073.1:n.*811_*818del
ENST00000680749.1:c.*307_*314del ENSP00000505122.1:n.*307_*314del
ENST00000680798.1:c.*497_*504del ENSP00000505670.1:n.*497_*504del
ENST00000680805.1:c.881_888del ENSP00000505447.1:p.Ala294GlyfsTer2
ENST00000680844.1:c.*806_*813del ENSP00000506541.1:n.*806_*813del
ENST00000680948.1:c.*889_*896del ENSP00000505441.1:n.*889_*896del
ENST00000680964.1:c.*115_*122del ENSP00000505961.1:n.*115_*122del
ENST00000681037.1:c.*2506_*2513del ENSP00000506025.1:n.*2506_*2513del
ENST00000681063.1:c.*291_*298del ENSP00000506616.1:n.*291_*298del
ENST00000681209.1:c.*677_*684del ENSP00000505877.1:n.*677_*684del
ENST00000681278.1:n.1724_1731del
ENST00000681289.1:n.5017_5024del
ENST00000681361.1:c.*689_*696del ENSP00000506679.1:n.*689_*696del
ENST00000681430.1:c.*115_*122del ENSP00000506301.1:n.*115_*122del
ENST00000681446.1:c.*726_*733del ENSP00000506244.1:n.*726_*733del
ENST00000681450.1:c.*693_*700del ENSP00000505660.1:n.*693_*700del
ENST00000681548.1:c.*608_*615del ENSP00000505275.1:n.*608_*615del
ENST00000681616.1:c.*681_*688del ENSP00000505111.1:n.*681_*688del
ENST00000681621.1:c.*606_*613del ENSP00000505770.1:n.*606_*613del
ENST00000681680.1:n.3117_3124del
ENST00000681720.1:c.*477_*484del ENSP00000505438.1:n.*477_*484del
ENST00000681730.1:n.1244_1251del
ENST00000681790.1:c.764_771del ENSP00000505130.1:p.Ala255GlyfsTer2
ENST00000681837.1:n.1638_1645del
ENST00000681913.1:n.3268_3275del
ENST00000681916.1:c.*790_*797del ENSP00000506477.1:n.*790_*797del
ENST00000681930.1:n.3146_3153del
ENST00000370834.9:c.1121_1128del ENSP00000359871.5:p.Ala374GlyfsTer2
ENST00000370841.8:c.1022_1029del ENSP00000359878.4:p.Ala341GlyfsTer2
ENST00000420607.6:c.1034_1041del ENSP00000409612.2:p.Ala345GlyfsTer2
ENST00000481374.1:n.295_302del
ENST00000525808.5:c.*608_*615del ENSP00000434823.1:n.*608_*615del
ENST00000526129.5:c.*806_*813del ENSP00000434092.1:n.*806_*813del
ENST00000526196.5:c.*790_*797del ENSP00000431953.1:n.*790_*797del
ENST00000528016.1:c.160-7979_160-7972del ENSP00000434284.1:n.160-7979_160-7972del
ENST00000529059.5:n.931_938del
ENST00000532207.5:n.752_759del
ENST00000534334.5:c.*763_*770del ENSP00000435584.1:n.*763_*770del
ENST00000541113.5:c.914_921del ENSP00000442324.1:p.Ala305GlyfsTer2
NM_000016.5:c.1022_1029del NP_000007.1:p.Ala341GlyfsTer2
NM_001127328.2:c.1034_1041del NP_001120800.1:p.Ala345GlyfsTer2
NM_001286042.1:c.914_921del NP_001272971.1:p.Ala305GlyfsTer2
NM_001286043.1:c.1121_1128del NP_001272972.1:p.Ala374GlyfsTer2
NM_001286044.1:c.455_462del NP_001272973.1:p.Ala152GlyfsTer2
NM_000016.6:c.1022_1029del MANE Select NP_000007.1:p.Ala341GlyfsTer2
NM_001127328.3:c.1034_1041del NP_001120800.1:p.Ala345GlyfsTer2
NM_001286042.2:c.914_921del NP_001272971.1:p.Ala305GlyfsTer2
NM_001286043.2:c.1121_1128del NP_001272972.1:p.Ala374GlyfsTer2
NM_001286044.2:c.455_462del NP_001272973.1:p.Ala152GlyfsTer2