Canonical Allele Identifier: CA913286
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 226109
ClinVar RCV Id: RCV000211490
dbSNP Id: rs875989877

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75761365dup , CM000663.2:g.75761365dup GRCh38
NC_000001.10:g.76227050dup , CM000663.1:g.76227050dup GRCh37
NC_000001.9:g.75999638dup NCBI36
NG_007045.2:g.42008dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370841.9:c.1189dup MANE Select ENSP00000359878.5:p.Tyr397LeufsTer5
ENST00000473018.3:n.3313dup
ENST00000532207.6:n.2200dup
ENST00000541113.6:c.1093dup ENSP00000442324.2:p.Tyr365LeufsTer5
ENST00000679509.1:n.2151dup
ENST00000679530.1:c.*957dup ENSP00000506454.1:n.*957dup
ENST00000679615.1:n.3204dup
ENST00000679687.1:c.751dup ENSP00000506598.1:p.Tyr251LeufsTer5
ENST00000679704.1:c.*955dup ENSP00000505117.1:n.*955dup
ENST00000679709.1:c.*1152dup ENSP00000506623.1:n.*1152dup
ENST00000679976.1:c.*773dup ENSP00000505565.1:n.*773dup
ENST00000680166.1:n.4478dup
ENST00000680315.1:n.1072dup
ENST00000680517.1:c.*577dup ENSP00000505803.1:n.*577dup
ENST00000680582.1:n.2151dup
ENST00000680613.1:c.*682dup ENSP00000506114.1:n.*682dup
ENST00000680662.1:c.*1103dup ENSP00000505080.1:n.*1103dup
ENST00000680691.1:c.*852dup ENSP00000506487.1:n.*852dup
ENST00000680694.1:c.*777dup ENSP00000505658.1:n.*777dup
ENST00000680743.1:c.*978dup ENSP00000505073.1:n.*978dup
ENST00000680749.1:c.*474dup ENSP00000505122.1:n.*474dup
ENST00000680798.1:c.*664dup ENSP00000505670.1:n.*664dup
ENST00000680805.1:c.1048dup ENSP00000505447.1:p.Tyr350LeufsTer5
ENST00000680844.1:c.*973dup ENSP00000506541.1:n.*973dup
ENST00000680948.1:c.*1056dup ENSP00000505441.1:n.*1056dup
ENST00000680964.1:c.*282dup ENSP00000505961.1:n.*282dup
ENST00000681037.1:c.*2673dup ENSP00000506025.1:n.*2673dup
ENST00000681063.1:c.*458dup ENSP00000506616.1:n.*458dup
ENST00000681209.1:c.*844dup ENSP00000505877.1:n.*844dup
ENST00000681278.1:n.1891dup
ENST00000681289.1:n.5184dup
ENST00000681361.1:c.*856dup ENSP00000506679.1:n.*856dup
ENST00000681430.1:c.*282dup ENSP00000506301.1:n.*282dup
ENST00000681446.1:c.*893dup ENSP00000506244.1:n.*893dup
ENST00000681450.1:c.*860dup ENSP00000505660.1:n.*860dup
ENST00000681548.1:c.*775dup ENSP00000505275.1:n.*775dup
ENST00000681616.1:c.*848dup ENSP00000505111.1:n.*848dup
ENST00000681621.1:c.*773dup ENSP00000505770.1:n.*773dup
ENST00000681680.1:n.3284dup
ENST00000681720.1:c.*644dup ENSP00000505438.1:n.*644dup
ENST00000681730.1:n.1411dup
ENST00000681790.1:c.931dup ENSP00000505130.1:p.Tyr311LeufsTer5
ENST00000681837.1:n.1805dup
ENST00000681913.1:n.3435dup
ENST00000681916.1:c.*957dup ENSP00000506477.1:n.*957dup
ENST00000681930.1:n.3313dup
ENST00000370834.9:c.1288dup ENSP00000359871.5:p.Tyr430LeufsTer5
ENST00000370841.8:c.1189dup ENSP00000359878.4:p.Tyr397LeufsTer5
ENST00000420607.6:c.1201dup ENSP00000409612.2:p.Tyr401LeufsTer5
ENST00000481374.1:n.462dup
ENST00000525808.5:c.*775dup ENSP00000434823.1:n.*775dup
ENST00000526129.5:c.*973dup ENSP00000434092.1:n.*973dup
ENST00000526196.5:c.*957dup ENSP00000431953.1:n.*957dup
ENST00000528016.1:c.160-7812dup ENSP00000434284.1:n.160-7812dup
ENST00000529059.5:n.1098dup
ENST00000541113.5:c.1081dup ENSP00000442324.1:p.Tyr361LeufsTer5
NM_000016.5:c.1189dup NP_000007.1:p.Tyr397LeufsTer5
NM_001127328.2:c.1201dup NP_001120800.1:p.Tyr401LeufsTer5
NM_001286042.1:c.1081dup NP_001272971.1:p.Tyr361LeufsTer5
NM_001286043.1:c.1288dup NP_001272972.1:p.Tyr430LeufsTer5
NM_001286044.1:c.622dup NP_001272973.1:p.Tyr208LeufsTer5
NM_000016.6:c.1189dup MANE Select NP_000007.1:p.Tyr397LeufsTer5
NM_001127328.3:c.1201dup NP_001120800.1:p.Tyr401LeufsTer5
NM_001286042.2:c.1081dup NP_001272971.1:p.Tyr361LeufsTer5
NM_001286043.2:c.1288dup NP_001272972.1:p.Tyr430LeufsTer5
NM_001286044.2:c.622dup NP_001272973.1:p.Tyr208LeufsTer5