Canonical Allele Identifier: CA2695198051

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2679997
• ClinVar RCV Id: RCV003474330

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761273del , CM000663.2:g.75761273del	GRCh38
NC_000001.10:g.76226958del , CM000663.1:g.76226958del	GRCh37
NC_000001.9:g.75999546del	NCBI36
NG_007045.2:g.41916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1097del MANE Select	ENSP00000359878.5:p.Asn366IlefsTer3
ENST00000473018.3:n.3221del
ENST00000532207.6:n.2108del
ENST00000541113.6:c.1001del	ENSP00000442324.2:p.Asn334IlefsTer3
ENST00000679509.1:n.2059del
ENST00000679530.1:c.*865del	ENSP00000506454.1:n.*865del
ENST00000679615.1:n.3112del
ENST00000679687.1:c.659del	ENSP00000506598.1:p.Asn220IlefsTer3
ENST00000679704.1:c.*863del	ENSP00000505117.1:n.*863del
ENST00000679709.1:c.*1060del	ENSP00000506623.1:n.*1060del
ENST00000679976.1:c.*681del	ENSP00000505565.1:n.*681del
ENST00000680166.1:n.4386del
ENST00000680315.1:n.980del
ENST00000680517.1:c.*485del	ENSP00000505803.1:n.*485del
ENST00000680582.1:n.2059del
ENST00000680613.1:c.*590del	ENSP00000506114.1:n.*590del
ENST00000680662.1:c.*1011del	ENSP00000505080.1:n.*1011del
ENST00000680691.1:c.*760del	ENSP00000506487.1:n.*760del
ENST00000680694.1:c.*685del	ENSP00000505658.1:n.*685del
ENST00000680743.1:c.*886del	ENSP00000505073.1:n.*886del
ENST00000680749.1:c.*382del	ENSP00000505122.1:n.*382del
ENST00000680798.1:c.*572del	ENSP00000505670.1:n.*572del
ENST00000680805.1:c.956del	ENSP00000505447.1:p.Asn319IlefsTer3
ENST00000680844.1:c.*881del	ENSP00000506541.1:n.*881del
ENST00000680948.1:c.*964del	ENSP00000505441.1:n.*964del
ENST00000680964.1:c.*190del	ENSP00000505961.1:n.*190del
ENST00000681037.1:c.*2581del	ENSP00000506025.1:n.*2581del
ENST00000681063.1:c.*366del	ENSP00000506616.1:n.*366del
ENST00000681209.1:c.*752del	ENSP00000505877.1:n.*752del
ENST00000681278.1:n.1799del
ENST00000681289.1:n.5092del
ENST00000681361.1:c.*764del	ENSP00000506679.1:n.*764del
ENST00000681430.1:c.*190del	ENSP00000506301.1:n.*190del
ENST00000681446.1:c.*801del	ENSP00000506244.1:n.*801del
ENST00000681450.1:c.*768del	ENSP00000505660.1:n.*768del
ENST00000681548.1:c.*683del	ENSP00000505275.1:n.*683del
ENST00000681616.1:c.*756del	ENSP00000505111.1:n.*756del
ENST00000681621.1:c.*681del	ENSP00000505770.1:n.*681del
ENST00000681680.1:n.3192del
ENST00000681720.1:c.*552del	ENSP00000505438.1:n.*552del
ENST00000681730.1:n.1319del
ENST00000681790.1:c.839del	ENSP00000505130.1:p.Asn280IlefsTer3
ENST00000681837.1:n.1713del
ENST00000681913.1:n.3343del
ENST00000681916.1:c.*865del	ENSP00000506477.1:n.*865del
ENST00000681930.1:n.3221del
ENST00000370834.9:c.1196del	ENSP00000359871.5:p.Asn399IlefsTer3
ENST00000370841.8:c.1097del	ENSP00000359878.4:p.Asn366IlefsTer3
ENST00000420607.6:c.1109del	ENSP00000409612.2:p.Asn370IlefsTer3
ENST00000481374.1:n.370del
ENST00000525808.5:c.*683del	ENSP00000434823.1:n.*683del
ENST00000526129.5:c.*881del	ENSP00000434092.1:n.*881del
ENST00000526196.5:c.*865del	ENSP00000431953.1:n.*865del
ENST00000528016.1:c.160-7904del	ENSP00000434284.1:n.160-7904del
ENST00000529059.5:n.1006del
ENST00000541113.5:c.989del	ENSP00000442324.1:p.Asn330IlefsTer3
NM_000016.5:c.1097del	NP_000007.1:p.Asn366IlefsTer3
NM_001127328.2:c.1109del	NP_001120800.1:p.Asn370IlefsTer3
NM_001286042.1:c.989del	NP_001272971.1:p.Asn330IlefsTer3
NM_001286043.1:c.1196del	NP_001272972.1:p.Asn399IlefsTer3
NM_001286044.1:c.530del	NP_001272973.1:p.Asn177IlefsTer3
NM_000016.6:c.1097del MANE Select	NP_000007.1:p.Asn366IlefsTer3
NM_001127328.3:c.1109del	NP_001120800.1:p.Asn370IlefsTer3
NM_001286042.2:c.989del	NP_001272971.1:p.Asn330IlefsTer3
NM_001286043.2:c.1196del	NP_001272972.1:p.Asn399IlefsTer3
NM_001286044.2:c.530del	NP_001272973.1:p.Asn177IlefsTer3