Canonical Allele Identifier: CA2586966777
Gene: ACADM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75740026_75740032del , CM000663.2:g.75740026_75740032del GRCh38
NC_000001.10:g.76205711_76205717del , CM000663.1:g.76205711_76205717del GRCh37
NC_000001.9:g.75978299_75978305del NCBI36
NG_007045.2:g.20669_20675del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370841.9:c.515_521del MANE Select ENSP00000359878.5:p.Ile172ThrfsTer19
ENST00000473018.3:n.2639_2645del
ENST00000541113.6:c.515_521del ENSP00000442324.2:p.Ile172ThrfsTer19
ENST00000679509.1:n.1477_1483del
ENST00000679530.1:c.*283_*289del ENSP00000506454.1:n.*283_*289del
ENST00000679615.1:n.2639_2645del
ENST00000679687.1:c.77_83del ENSP00000506598.1:p.Ile26ThrfsTer19
ENST00000679704.1:c.*281_*287del ENSP00000505117.1:n.*281_*287del
ENST00000679709.1:c.*478_*484del ENSP00000506623.1:n.*478_*484del
ENST00000679804.1:n.254_260del
ENST00000679976.1:c.*99_*105del ENSP00000505565.1:n.*99_*105del
ENST00000680166.1:n.3804_3810del
ENST00000680517.1:c.*12_*18del ENSP00000505803.1:n.*12_*18del
ENST00000680582.1:n.1477_1483del
ENST00000680613.1:c.515_521del ENSP00000506114.1:p.Ile172ThrfsTer19
ENST00000680662.1:c.*429_*435del ENSP00000505080.1:n.*429_*435del
ENST00000680691.1:c.*178_*184del ENSP00000506487.1:n.*178_*184del
ENST00000680694.1:c.*103_*109del ENSP00000505658.1:n.*103_*109del
ENST00000680743.1:c.*182_*188del ENSP00000505073.1:n.*182_*188del
ENST00000680749.1:c.515_521del ENSP00000505122.1:p.Ile172ThrfsTer19
ENST00000680798.1:c.*99_*105del ENSP00000505670.1:n.*99_*105del
ENST00000680805.1:c.515_521del ENSP00000505447.1:p.Ile172ThrfsTer19
ENST00000680844.1:c.*299_*305del ENSP00000506541.1:n.*299_*305del
ENST00000680948.1:c.*382_*388del ENSP00000505441.1:n.*382_*388del
ENST00000680964.1:c.515_521del ENSP00000505961.1:p.Ile172ThrfsTer19
ENST00000681037.1:c.515_521del ENSP00000506025.1:p.Ile172ThrfsTer19
ENST00000681063.1:c.515_521del ENSP00000506616.1:p.Ile172ThrfsTer19
ENST00000681209.1:c.*279_*285del ENSP00000505877.1:n.*279_*285del
ENST00000681278.1:n.872_878del
ENST00000681289.1:n.872_878del
ENST00000681361.1:c.*182_*188del ENSP00000506679.1:n.*182_*188del
ENST00000681430.1:c.515_521del ENSP00000506301.1:p.Ile172ThrfsTer19
ENST00000681446.1:c.*97_*103del ENSP00000506244.1:n.*97_*103del
ENST00000681450.1:c.*186_*192del ENSP00000505660.1:n.*186_*192del
ENST00000681548.1:c.*101_*107del ENSP00000505275.1:n.*101_*107del
ENST00000681616.1:c.*283_*289del ENSP00000505111.1:n.*283_*289del
ENST00000681621.1:c.*99_*105del ENSP00000505770.1:n.*99_*105del
ENST00000681680.1:n.2639_2645del
ENST00000681720.1:c.*55-5780_*55-5774del ENSP00000505438.1:n.*55-5780_*55-5774del
ENST00000681730.1:n.737_743del
ENST00000681790.1:c.257_263del ENSP00000505130.1:p.Ile86ThrfsTer19
ENST00000681837.1:n.1131_1137del
ENST00000681913.1:n.2639_2645del
ENST00000681916.1:c.*283_*289del ENSP00000506477.1:n.*283_*289del
ENST00000681930.1:n.2639_2645del
ENST00000370834.9:c.614_620del ENSP00000359871.5:p.Ile205ThrfsTer19
ENST00000370841.8:c.515_521del ENSP00000359878.4:p.Ile172ThrfsTer19
ENST00000420607.6:c.527_533del ENSP00000409612.2:p.Ile176ThrfsTer19
ENST00000525808.5:c.*101_*107del ENSP00000434823.1:n.*101_*107del
ENST00000526129.5:c.*299_*305del ENSP00000434092.1:n.*299_*305del
ENST00000526196.5:c.*283_*289del ENSP00000431953.1:n.*283_*289del
ENST00000526930.1:n.288_294del
ENST00000529059.5:n.424_430del
ENST00000530953.6:c.*12_*18del ENSP00000431372.1:n.*12_*18del
ENST00000532509.5:c.*279_*285del ENSP00000432522.1:n.*279_*285del
ENST00000534334.5:c.*99_*105del ENSP00000435584.1:n.*99_*105del
ENST00000541113.5:c.407_413del ENSP00000442324.1:p.Ile136ThrfsTer19
NM_000016.5:c.515_521del NP_000007.1:p.Ile172ThrfsTer19
NM_001127328.2:c.527_533del NP_001120800.1:p.Ile176ThrfsTer19
NM_001286042.1:c.407_413del NP_001272971.1:p.Ile136ThrfsTer19
NM_001286043.1:c.614_620del NP_001272972.1:p.Ile205ThrfsTer19
NM_001286044.1:c.-53_-47del NP_001272973.1:n.-53_-47del
NM_000016.6:c.515_521del MANE Select NP_000007.1:p.Ile172ThrfsTer19
NM_001127328.3:c.527_533del NP_001120800.1:p.Ile176ThrfsTer19
NM_001286042.2:c.407_413del NP_001272971.1:p.Ile136ThrfsTer19
NM_001286043.2:c.614_620del NP_001272972.1:p.Ile205ThrfsTer19
NM_001286044.2:c.-53_-47del NP_001272973.1:n.-53_-47del