Canonical Allele Identifier: CA2646248322

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2861388
• ClinVar RCV Id: RCV003609089
• gnomAD v4: 1-75761223-A-AAATACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761225_75761231dup , CM000663.2:g.75761225_75761231dup	GRCh38
NC_000001.10:g.76226910_76226916dup , CM000663.1:g.76226910_76226916dup	GRCh37
NC_000001.9:g.75999498_75999504dup	NCBI36
NG_007045.2:g.41868_41874dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1049_1055dup MANE Select	ENSP00000359878.5:p.Tyr352Ter
ENST00000473018.3:n.3173_3179dup
ENST00000532207.6:n.2060_2066dup
ENST00000541113.6:c.953_959dup	ENSP00000442324.2:p.Tyr320Ter
ENST00000679509.1:n.2011_2017dup
ENST00000679530.1:c.*817_*823dup	ENSP00000506454.1:n.*817_*823dup
ENST00000679615.1:n.3064_3070dup
ENST00000679687.1:c.611_617dup	ENSP00000506598.1:p.Tyr206Ter
ENST00000679704.1:c.*815_*821dup	ENSP00000505117.1:n.*815_*821dup
ENST00000679709.1:c.*1012_*1018dup	ENSP00000506623.1:n.*1012_*1018dup
ENST00000679976.1:c.*633_*639dup	ENSP00000505565.1:n.*633_*639dup
ENST00000680166.1:n.4338_4344dup
ENST00000680315.1:n.932_938dup
ENST00000680517.1:c.*437_*443dup	ENSP00000505803.1:n.*437_*443dup
ENST00000680582.1:n.2011_2017dup
ENST00000680613.1:c.*542_*548dup	ENSP00000506114.1:n.*542_*548dup
ENST00000680662.1:c.*963_*969dup	ENSP00000505080.1:n.*963_*969dup
ENST00000680691.1:c.*712_*718dup	ENSP00000506487.1:n.*712_*718dup
ENST00000680694.1:c.*637_*643dup	ENSP00000505658.1:n.*637_*643dup
ENST00000680743.1:c.*838_*844dup	ENSP00000505073.1:n.*838_*844dup
ENST00000680749.1:c.*334_*340dup	ENSP00000505122.1:n.*334_*340dup
ENST00000680798.1:c.*524_*530dup	ENSP00000505670.1:n.*524_*530dup
ENST00000680805.1:c.908_914dup	ENSP00000505447.1:p.Tyr305Ter
ENST00000680844.1:c.*833_*839dup	ENSP00000506541.1:n.*833_*839dup
ENST00000680948.1:c.*916_*922dup	ENSP00000505441.1:n.*916_*922dup
ENST00000680964.1:c.*142_*148dup	ENSP00000505961.1:n.*142_*148dup
ENST00000681037.1:c.*2533_*2539dup	ENSP00000506025.1:n.*2533_*2539dup
ENST00000681063.1:c.*318_*324dup	ENSP00000506616.1:n.*318_*324dup
ENST00000681209.1:c.*704_*710dup	ENSP00000505877.1:n.*704_*710dup
ENST00000681278.1:n.1751_1757dup
ENST00000681289.1:n.5044_5050dup
ENST00000681361.1:c.*716_*722dup	ENSP00000506679.1:n.*716_*722dup
ENST00000681430.1:c.*142_*148dup	ENSP00000506301.1:n.*142_*148dup
ENST00000681446.1:c.*753_*759dup	ENSP00000506244.1:n.*753_*759dup
ENST00000681450.1:c.*720_*726dup	ENSP00000505660.1:n.*720_*726dup
ENST00000681548.1:c.*635_*641dup	ENSP00000505275.1:n.*635_*641dup
ENST00000681616.1:c.*708_*714dup	ENSP00000505111.1:n.*708_*714dup
ENST00000681621.1:c.*633_*639dup	ENSP00000505770.1:n.*633_*639dup
ENST00000681680.1:n.3144_3150dup
ENST00000681720.1:c.*504_*510dup	ENSP00000505438.1:n.*504_*510dup
ENST00000681730.1:n.1271_1277dup
ENST00000681790.1:c.791_797dup	ENSP00000505130.1:p.Tyr266Ter
ENST00000681837.1:n.1665_1671dup
ENST00000681913.1:n.3295_3301dup
ENST00000681916.1:c.*817_*823dup	ENSP00000506477.1:n.*817_*823dup
ENST00000681930.1:n.3173_3179dup
ENST00000370834.9:c.1148_1154dup	ENSP00000359871.5:p.Tyr385Ter
ENST00000370841.8:c.1049_1055dup	ENSP00000359878.4:p.Tyr352Ter
ENST00000420607.6:c.1061_1067dup	ENSP00000409612.2:p.Tyr356Ter
ENST00000481374.1:n.322_328dup
ENST00000525808.5:c.*635_*641dup	ENSP00000434823.1:n.*635_*641dup
ENST00000526129.5:c.*833_*839dup	ENSP00000434092.1:n.*833_*839dup
ENST00000526196.5:c.*817_*823dup	ENSP00000431953.1:n.*817_*823dup
ENST00000528016.1:c.160-7952_160-7946dup	ENSP00000434284.1:n.160-7952_160-7946dup
ENST00000529059.5:n.958_964dup
ENST00000534334.5:c.*790_*796dup	ENSP00000435584.1:n.*790_*796dup
ENST00000541113.5:c.941_947dup	ENSP00000442324.1:p.Tyr316Ter
NM_000016.5:c.1049_1055dup	NP_000007.1:p.Tyr352Ter
NM_001127328.2:c.1061_1067dup	NP_001120800.1:p.Tyr356Ter
NM_001286042.1:c.941_947dup	NP_001272971.1:p.Tyr316Ter
NM_001286043.1:c.1148_1154dup	NP_001272972.1:p.Tyr385Ter
NM_001286044.1:c.482_488dup	NP_001272973.1:p.Tyr163Ter
NM_000016.6:c.1049_1055dup MANE Select	NP_000007.1:p.Tyr352Ter
NM_001127328.3:c.1061_1067dup	NP_001120800.1:p.Tyr356Ter
NM_001286042.2:c.941_947dup	NP_001272971.1:p.Tyr316Ter
NM_001286043.2:c.1148_1154dup	NP_001272972.1:p.Tyr385Ter
NM_001286044.2:c.482_488dup	NP_001272973.1:p.Tyr163Ter