Canonical Allele Identifier: CA2580063248

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1724468
• ClinVar RCV Id: RCV002309736

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75733562_75733563del , CM000663.2:g.75733562_75733563del	GRCh38
NC_000001.10:g.76199247_76199248del , CM000663.1:g.76199247_76199248del	GRCh37
NC_000001.9:g.75971835_75971836del	NCBI36
NG_007045.2:g.14205_14206del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.321_322del MANE Select	ENSP00000359878.5:p.Leu107PhefsTer2
ENST00000473018.3:n.1283_1284del
ENST00000525881.6:n.1283_1284del
ENST00000541113.6:c.321_322del	ENSP00000442324.2:p.Leu107PhefsTer2
ENST00000679509.1:n.1283_1284del
ENST00000679530.1:c.*89_*90del	ENSP00000506454.1:n.*89_*90del
ENST00000679615.1:n.1283_1284del
ENST00000679687.1:c.31-6418_31-6417del	ENSP00000506598.1:n.31-6418_31-6417del
ENST00000679704.1:c.*153+413_*153+414del	ENSP00000505117.1:n.*153+413_*153+414del
ENST00000679709.1:c.*284_*285del	ENSP00000506623.1:n.*284_*285del
ENST00000679804.1:n.207+640_207+641del
ENST00000679976.1:c.286+640_286+641del	ENSP00000505565.1:n.286+640_286+641del
ENST00000680166.1:n.2448_2449del
ENST00000680517.1:c.286+640_286+641del	ENSP00000505803.1:n.286+640_286+641del
ENST00000680582.1:n.1283_1284del
ENST00000680613.1:c.321_322del	ENSP00000506114.1:p.Leu107PhefsTer2
ENST00000680662.1:c.*235_*236del	ENSP00000505080.1:n.*235_*236del
ENST00000680691.1:c.*50+640_*50+641del	ENSP00000506487.1:n.*50+640_*50+641del
ENST00000680694.1:c.286+640_286+641del	ENSP00000505658.1:n.286+640_286+641del
ENST00000680743.1:c.*54+640_*54+641del	ENSP00000505073.1:n.*54+640_*54+641del
ENST00000680749.1:c.321_322del	ENSP00000505122.1:p.Leu107PhefsTer2
ENST00000680798.1:c.286+640_286+641del	ENSP00000505670.1:n.286+640_286+641del
ENST00000680805.1:c.321_322del	ENSP00000505447.1:p.Leu107PhefsTer2
ENST00000680844.1:c.*105_*106del	ENSP00000506541.1:n.*105_*106del
ENST00000680948.1:c.*188_*189del	ENSP00000505441.1:n.*188_*189del
ENST00000680964.1:c.321_322del	ENSP00000505961.1:p.Leu107PhefsTer2
ENST00000681037.1:c.321_322del	ENSP00000506025.1:p.Leu107PhefsTer2
ENST00000681063.1:c.321_322del	ENSP00000506616.1:p.Leu107PhefsTer2
ENST00000681209.1:c.*85_*86del	ENSP00000505877.1:n.*85_*86del
ENST00000681278.1:n.678_679del
ENST00000681289.1:n.678_679del
ENST00000681361.1:c.*54+640_*54+641del	ENSP00000506679.1:n.*54+640_*54+641del
ENST00000681430.1:c.321_322del	ENSP00000506301.1:p.Leu107PhefsTer2
ENST00000681446.1:c.286+640_286+641del	ENSP00000506244.1:n.286+640_286+641del
ENST00000681450.1:c.*54+640_*54+641del	ENSP00000505660.1:n.*54+640_*54+641del
ENST00000681548.1:c.*54+640_*54+641del	ENSP00000505275.1:n.*54+640_*54+641del
ENST00000681616.1:c.*89_*90del	ENSP00000505111.1:n.*89_*90del
ENST00000681621.1:c.286+640_286+641del	ENSP00000505770.1:n.286+640_286+641del
ENST00000681680.1:n.1283_1284del
ENST00000681720.1:c.*54+640_*54+641del	ENSP00000505438.1:n.*54+640_*54+641del
ENST00000681730.1:n.543_544del
ENST00000681790.1:c.63_64del	ENSP00000505130.1:p.Leu21PhefsTer2
ENST00000681837.1:n.937_938del
ENST00000681913.1:n.1283_1284del
ENST00000681916.1:c.*89_*90del	ENSP00000506477.1:n.*89_*90del
ENST00000681930.1:n.1283_1284del
ENST00000370834.9:c.420_421del	ENSP00000359871.5:p.Leu140PhefsTer2
ENST00000370841.8:c.321_322del	ENSP00000359878.4:p.Leu107PhefsTer2
ENST00000420607.6:c.333_334del	ENSP00000409612.2:p.Leu111PhefsTer2
ENST00000525808.5:c.*54+640_*54+641del	ENSP00000434823.1:n.*54+640_*54+641del
ENST00000526129.5:c.*105_*106del	ENSP00000434092.1:n.*105_*106del
ENST00000526196.5:c.*89_*90del	ENSP00000431953.1:n.*89_*90del
ENST00000529059.5:n.296+640_296+641del
ENST00000530953.6:c.118+5074_118+5075del	ENSP00000431372.1:n.118+5074_118+5075del
ENST00000532509.5:c.*85_*86del	ENSP00000432522.1:n.*85_*86del
ENST00000534334.5:c.286+640_286+641del	ENSP00000435584.1:n.286+640_286+641del
ENST00000541113.5:c.213_214del	ENSP00000442324.1:p.Leu71PhefsTer2
NM_000016.5:c.321_322del	NP_000007.1:p.Leu107PhefsTer2
NM_001127328.2:c.333_334del	NP_001120800.1:p.Leu111PhefsTer2
NM_001286042.1:c.213_214del	NP_001272971.1:p.Leu71PhefsTer2
NM_001286043.1:c.420_421del	NP_001272972.1:p.Leu140PhefsTer2
NM_001286044.1:c.-100+640_-100+641del	NP_001272973.1:n.-100+640_-100+641del
NM_000016.6:c.321_322del MANE Select	NP_000007.1:p.Leu107PhefsTer2
NM_001127328.3:c.333_334del	NP_001120800.1:p.Leu111PhefsTer2
NM_001286042.2:c.213_214del	NP_001272971.1:p.Leu71PhefsTer2
NM_001286043.2:c.420_421del	NP_001272972.1:p.Leu140PhefsTer2
NM_001286044.2:c.-100+640_-100+641del	NP_001272973.1:n.-100+640_-100+641del