Canonical Allele Identifier: CA2580063250

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1726138
• ClinVar RCV Id: RCV002307109

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75734870del , CM000663.2:g.75734870del	GRCh38
NC_000001.10:g.76200555del , CM000663.1:g.76200555del	GRCh37
NC_000001.9:g.75973143del	NCBI36
NG_007045.2:g.15513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.467del MANE Select	ENSP00000359878.5:p.Cys156LeufsTer5
ENST00000473018.3:n.2591del
ENST00000525881.6:n.1429del
ENST00000541113.6:c.467del	ENSP00000442324.2:p.Cys156LeufsTer5
ENST00000679509.1:n.1429del
ENST00000679530.1:c.*235del	ENSP00000506454.1:n.*235del
ENST00000679615.1:n.2591del
ENST00000679687.1:c.31-5110del	ENSP00000506598.1:n.31-5110del
ENST00000679704.1:c.*233del	ENSP00000505117.1:n.*233del
ENST00000679709.1:c.*430del	ENSP00000506623.1:n.*430del
ENST00000679804.1:n.207+1948del
ENST00000679976.1:c.*51del	ENSP00000505565.1:n.*51del
ENST00000680166.1:n.3756del
ENST00000680517.1:c.286+1948del	ENSP00000505803.1:n.286+1948del
ENST00000680582.1:n.1429del
ENST00000680613.1:c.467del	ENSP00000506114.1:p.Cys156LeufsTer5
ENST00000680662.1:c.*381del	ENSP00000505080.1:n.*381del
ENST00000680691.1:c.*130del	ENSP00000506487.1:n.*130del
ENST00000680694.1:c.*51del	ENSP00000505658.1:n.*51del
ENST00000680743.1:c.*134del	ENSP00000505073.1:n.*134del
ENST00000680749.1:c.467del	ENSP00000505122.1:p.Cys156LeufsTer5
ENST00000680798.1:c.*51del	ENSP00000505670.1:n.*51del
ENST00000680805.1:c.467del	ENSP00000505447.1:p.Cys156LeufsTer5
ENST00000680844.1:c.*251del	ENSP00000506541.1:n.*251del
ENST00000680948.1:c.*334del	ENSP00000505441.1:n.*334del
ENST00000680964.1:c.467del	ENSP00000505961.1:p.Cys156LeufsTer5
ENST00000681037.1:c.467del	ENSP00000506025.1:p.Cys156LeufsTer5
ENST00000681063.1:c.467del	ENSP00000506616.1:p.Cys156LeufsTer5
ENST00000681209.1:c.*231del	ENSP00000505877.1:n.*231del
ENST00000681278.1:n.824del
ENST00000681289.1:n.824del
ENST00000681361.1:c.*134del	ENSP00000506679.1:n.*134del
ENST00000681430.1:c.467del	ENSP00000506301.1:p.Cys156LeufsTer5
ENST00000681446.1:c.*50+1del	ENSP00000506244.1:n.*50+1del
ENST00000681450.1:c.*134del	ENSP00000505660.1:n.*134del
ENST00000681548.1:c.*54+1948del	ENSP00000505275.1:n.*54+1948del
ENST00000681616.1:c.*235del	ENSP00000505111.1:n.*235del
ENST00000681621.1:c.*51del	ENSP00000505770.1:n.*51del
ENST00000681680.1:n.2591del
ENST00000681720.1:c.*54+1948del	ENSP00000505438.1:n.*54+1948del
ENST00000681730.1:n.689del
ENST00000681790.1:c.209del	ENSP00000505130.1:p.Cys70LeufsTer5
ENST00000681837.1:n.1083del
ENST00000681913.1:n.2591del
ENST00000681916.1:c.*235del	ENSP00000506477.1:n.*235del
ENST00000681930.1:n.2591del
ENST00000370834.9:c.566del	ENSP00000359871.5:p.Cys189LeufsTer5
ENST00000370841.8:c.467del	ENSP00000359878.4:p.Cys156LeufsTer5
ENST00000420607.6:c.479del	ENSP00000409612.2:p.Cys160LeufsTer5
ENST00000525808.5:c.*54+1948del	ENSP00000434823.1:n.*54+1948del
ENST00000526129.5:c.*251del	ENSP00000434092.1:n.*251del
ENST00000526196.5:c.*235del	ENSP00000431953.1:n.*235del
ENST00000526930.1:n.240del
ENST00000529059.5:n.376del
ENST00000530953.6:c.119-5110del	ENSP00000431372.1:n.119-5110del
ENST00000532509.5:c.*231del	ENSP00000432522.1:n.*231del
ENST00000534334.5:c.*51del	ENSP00000435584.1:n.*51del
ENST00000541113.5:c.359del	ENSP00000442324.1:p.Cys120LeufsTer5
NM_000016.5:c.467del	NP_000007.1:p.Cys156LeufsTer5
NM_001127328.2:c.479del	NP_001120800.1:p.Cys160LeufsTer5
NM_001286042.1:c.359del	NP_001272971.1:p.Cys120LeufsTer5
NM_001286043.1:c.566del	NP_001272972.1:p.Cys189LeufsTer5
NM_001286044.1:c.-100+1948del	NP_001272973.1:n.-100+1948del
NM_000016.6:c.467del MANE Select	NP_000007.1:p.Cys156LeufsTer5
NM_001127328.3:c.479del	NP_001120800.1:p.Cys160LeufsTer5
NM_001286042.2:c.359del	NP_001272971.1:p.Cys120LeufsTer5
NM_001286043.2:c.566del	NP_001272972.1:p.Cys189LeufsTer5
NM_001286044.2:c.-100+1948del	NP_001272973.1:n.-100+1948del