Canonical Allele Identifier: CA913077124
Gene: ACADM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75740044_75740077del , CM000663.2:g.75740044_75740077del GRCh38
NC_000001.10:g.76205729_76205762del , CM000663.1:g.76205729_76205762del GRCh37
NC_000001.9:g.75978317_75978350del NCBI36
NG_007045.2:g.20687_20720del

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.533_566del MANE Select ENSP00000359878.5:p.Lys178ArgfsTer4
ENST00000473018.3:n.2657_2690del
ENST00000541113.6:c.533_566del ENSP00000442324.2:p.Lys178ArgfsTer4
ENST00000679509.1:n.1495_1528del
ENST00000679530.1:c.*301_*334del ENSP00000506454.1:n.*301_*334del
ENST00000679615.1:n.2657_2690del
ENST00000679687.1:c.95_128del ENSP00000506598.1:p.Lys32ArgfsTer4
ENST00000679704.1:c.*299_*332del ENSP00000505117.1:n.*299_*332del
ENST00000679709.1:c.*496_*529del ENSP00000506623.1:n.*496_*529del
ENST00000679804.1:n.272_305del
ENST00000679976.1:c.*117_*150del ENSP00000505565.1:n.*117_*150del
ENST00000680166.1:n.3822_3855del
ENST00000680517.1:c.*30_*63del ENSP00000505803.1:n.*30_*63del
ENST00000680582.1:n.1495_1528del
ENST00000680613.1:c.533_566del ENSP00000506114.1:p.Lys178ArgfsTer4
ENST00000680662.1:c.*447_*480del ENSP00000505080.1:n.*447_*480del
ENST00000680691.1:c.*196_*229del ENSP00000506487.1:n.*196_*229del
ENST00000680694.1:c.*121_*154del ENSP00000505658.1:n.*121_*154del
ENST00000680743.1:c.*200_*233del ENSP00000505073.1:n.*200_*233del
ENST00000680749.1:c.533_566del ENSP00000505122.1:p.Lys178ArgfsTer4
ENST00000680798.1:c.*117_*150del ENSP00000505670.1:n.*117_*150del
ENST00000680805.1:c.533_566del ENSP00000505447.1:p.Lys178ArgfsTer4
ENST00000680844.1:c.*317_*350del ENSP00000506541.1:n.*317_*350del
ENST00000680948.1:c.*400_*433del ENSP00000505441.1:n.*400_*433del
ENST00000680964.1:c.533_566del ENSP00000505961.1:p.Lys178ArgfsTer4
ENST00000681037.1:c.533_566del ENSP00000506025.1:p.Lys178ArgfsTer4
ENST00000681063.1:c.533_566del ENSP00000506616.1:p.Lys178ArgfsTer4
ENST00000681209.1:c.*297_*330del ENSP00000505877.1:n.*297_*330del
ENST00000681278.1:n.890_923del
ENST00000681289.1:n.890_923del
ENST00000681361.1:c.*200_*233del ENSP00000506679.1:n.*200_*233del
ENST00000681430.1:c.533_566del ENSP00000506301.1:p.Lys178ArgfsTer4
ENST00000681446.1:c.*115_*148del ENSP00000506244.1:n.*115_*148del
ENST00000681450.1:c.*204_*237del ENSP00000505660.1:n.*204_*237del
ENST00000681548.1:c.*119_*152del ENSP00000505275.1:n.*119_*152del
ENST00000681616.1:c.*301_*334del ENSP00000505111.1:n.*301_*334del
ENST00000681621.1:c.*117_*150del ENSP00000505770.1:n.*117_*150del
ENST00000681680.1:n.2657_2690del
ENST00000681720.1:c.*55-5762_*55-5729del ENSP00000505438.1:n.*55-5762_*55-5729del
ENST00000681730.1:n.755_788del
ENST00000681790.1:c.275_308del ENSP00000505130.1:p.Lys92ArgfsTer4
ENST00000681837.1:n.1149_1182del
ENST00000681913.1:n.2657_2690del
ENST00000681916.1:c.*301_*334del ENSP00000506477.1:n.*301_*334del
ENST00000681930.1:n.2657_2690del
ENST00000370834.9:c.632_665del ENSP00000359871.5:p.Lys211ArgfsTer4
ENST00000370841.8:c.533_566del ENSP00000359878.4:p.Lys178ArgfsTer4
ENST00000420607.6:c.545_578del ENSP00000409612.2:p.Lys182ArgfsTer4
ENST00000525808.5:c.*119_*152del ENSP00000434823.1:n.*119_*152del
ENST00000526129.5:c.*317_*350del ENSP00000434092.1:n.*317_*350del
ENST00000526196.5:c.*301_*334del ENSP00000431953.1:n.*301_*334del
ENST00000526930.1:n.306_339del
ENST00000529059.5:n.442_475del
ENST00000530953.6:c.*30_*63del ENSP00000431372.1:n.*30_*63del
ENST00000532509.5:c.*297_*330del ENSP00000432522.1:n.*297_*330del
ENST00000534334.5:c.*117_*150del ENSP00000435584.1:n.*117_*150del
ENST00000541113.5:c.425_458del ENSP00000442324.1:p.Lys142ArgfsTer4
NM_000016.5:c.533_566del NP_000007.1:p.Lys178ArgfsTer4
NM_001127328.2:c.545_578del NP_001120800.1:p.Lys182ArgfsTer4
NM_001286042.1:c.425_458del NP_001272971.1:p.Lys142ArgfsTer4
NM_001286043.1:c.632_665del NP_001272972.1:p.Lys211ArgfsTer4
NM_001286044.1:c.-35_-2del NP_001272973.1:n.-35_-2del
NM_000016.6:c.533_566del MANE Select NP_000007.1:p.Lys178ArgfsTer4
NM_001127328.3:c.545_578del NP_001120800.1:p.Lys182ArgfsTer4
NM_001286042.2:c.425_458del NP_001272971.1:p.Lys142ArgfsTer4
NM_001286043.2:c.632_665del NP_001272972.1:p.Lys211ArgfsTer4
NM_001286044.2:c.-35_-2del NP_001272973.1:n.-35_-2del