Canonical Allele Identifier: CA2646248424
Gene: ACADM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75735011_75735016del , CM000663.2:g.75735011_75735016del GRCh38
NC_000001.10:g.76200696_76200701del , CM000663.1:g.76200696_76200701del GRCh37
NC_000001.9:g.75973284_75973289del NCBI36
NG_007045.2:g.15654_15659del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370841.9:c.468+140_468+145del MANE Select ENSP00000359878.5:n.468+140_468+145del
ENST00000473018.3:n.2592+140_2592+145del
ENST00000525881.6:n.1570_1575del
ENST00000541113.6:c.468+140_468+145del ENSP00000442324.2:n.468+140_468+145del
ENST00000679509.1:n.1430+140_1430+145del
ENST00000679530.1:c.*236+140_*236+145del ENSP00000506454.1:n.*236+140_*236+145del
ENST00000679615.1:n.2592+140_2592+145del
ENST00000679687.1:c.31-4969_31-4964del ENSP00000506598.1:n.31-4969_31-4964del
ENST00000679704.1:c.*234+140_*234+145del ENSP00000505117.1:n.*234+140_*234+145del
ENST00000679709.1:c.*431+140_*431+145del ENSP00000506623.1:n.*431+140_*431+145del
ENST00000679804.1:n.207+2089_207+2094del
ENST00000679976.1:c.*52+140_*52+145del ENSP00000505565.1:n.*52+140_*52+145del
ENST00000680166.1:n.3757+140_3757+145del
ENST00000680517.1:c.286+2089_286+2094del ENSP00000505803.1:n.286+2089_286+2094del
ENST00000680582.1:n.1430+140_1430+145del
ENST00000680613.1:c.468+140_468+145del ENSP00000506114.1:n.468+140_468+145del
ENST00000680662.1:c.*382+140_*382+145del ENSP00000505080.1:n.*382+140_*382+145del
ENST00000680691.1:c.*131+140_*131+145del ENSP00000506487.1:n.*131+140_*131+145del
ENST00000680694.1:c.*56+136_*56+141del ENSP00000505658.1:n.*56+136_*56+141del
ENST00000680743.1:c.*135+140_*135+145del ENSP00000505073.1:n.*135+140_*135+145del
ENST00000680749.1:c.468+140_468+145del ENSP00000505122.1:n.468+140_468+145del
ENST00000680798.1:c.*52+140_*52+145del ENSP00000505670.1:n.*52+140_*52+145del
ENST00000680805.1:c.468+140_468+145del ENSP00000505447.1:n.468+140_468+145del
ENST00000680844.1:c.*252+140_*252+145del ENSP00000506541.1:n.*252+140_*252+145del
ENST00000680948.1:c.*335+140_*335+145del ENSP00000505441.1:n.*335+140_*335+145del
ENST00000680964.1:c.468+140_468+145del ENSP00000505961.1:n.468+140_468+145del
ENST00000681037.1:c.468+140_468+145del ENSP00000506025.1:n.468+140_468+145del
ENST00000681063.1:c.468+140_468+145del ENSP00000506616.1:n.468+140_468+145del
ENST00000681209.1:c.*232+140_*232+145del ENSP00000505877.1:n.*232+140_*232+145del
ENST00000681278.1:n.825+140_825+145del
ENST00000681289.1:n.825+140_825+145del
ENST00000681361.1:c.*135+140_*135+145del ENSP00000506679.1:n.*135+140_*135+145del
ENST00000681430.1:c.468+140_468+145del ENSP00000506301.1:n.468+140_468+145del
ENST00000681446.1:c.*50+142_*50+147del ENSP00000506244.1:n.*50+142_*50+147del
ENST00000681450.1:c.*139+136_*139+141del ENSP00000505660.1:n.*139+136_*139+141del
ENST00000681548.1:c.*54+2089_*54+2094del ENSP00000505275.1:n.*54+2089_*54+2094del
ENST00000681616.1:c.*236+140_*236+145del ENSP00000505111.1:n.*236+140_*236+145del
ENST00000681621.1:c.*52+140_*52+145del ENSP00000505770.1:n.*52+140_*52+145del
ENST00000681680.1:n.2592+140_2592+145del
ENST00000681720.1:c.*54+2089_*54+2094del ENSP00000505438.1:n.*54+2089_*54+2094del
ENST00000681730.1:n.690+140_690+145del
ENST00000681790.1:c.210+140_210+145del ENSP00000505130.1:n.210+140_210+145del
ENST00000681837.1:n.1084+140_1084+145del
ENST00000681913.1:n.2592+140_2592+145del
ENST00000681916.1:c.*236+140_*236+145del ENSP00000506477.1:n.*236+140_*236+145del
ENST00000681930.1:n.2592+140_2592+145del
ENST00000370834.9:c.567+140_567+145del ENSP00000359871.5:n.567+140_567+145del
ENST00000370841.8:c.468+140_468+145del ENSP00000359878.4:n.468+140_468+145del
ENST00000420607.6:c.480+140_480+145del ENSP00000409612.2:n.480+140_480+145del
ENST00000525808.5:c.*54+2089_*54+2094del ENSP00000434823.1:n.*54+2089_*54+2094del
ENST00000526129.5:c.*252+140_*252+145del ENSP00000434092.1:n.*252+140_*252+145del
ENST00000526196.5:c.*236+140_*236+145del ENSP00000431953.1:n.*236+140_*236+145del
ENST00000526930.1:n.241+140_241+145del
ENST00000529059.5:n.377+140_377+145del
ENST00000530953.6:c.119-4969_119-4964del ENSP00000431372.1:n.119-4969_119-4964del
ENST00000532509.5:c.*232+140_*232+145del ENSP00000432522.1:n.*232+140_*232+145del
ENST00000534334.5:c.*52+140_*52+145del ENSP00000435584.1:n.*52+140_*52+145del
ENST00000541113.5:c.360+140_360+145del ENSP00000442324.1:n.360+140_360+145del
NM_000016.5:c.468+140_468+145del NP_000007.1:n.468+140_468+145del
NM_001127328.2:c.480+140_480+145del NP_001120800.1:n.480+140_480+145del
NM_001286042.1:c.360+140_360+145del NP_001272971.1:n.360+140_360+145del
NM_001286043.1:c.567+140_567+145del NP_001272972.1:n.567+140_567+145del
NM_001286044.1:c.-100+2089_-100+2094del NP_001272973.1:n.-100+2089_-100+2094del
NM_000016.6:c.468+140_468+145del MANE Select NP_000007.1:n.468+140_468+145del
NM_001127328.3:c.480+140_480+145del NP_001120800.1:n.480+140_480+145del
NM_001286042.2:c.360+140_360+145del NP_001272971.1:n.360+140_360+145del
NM_001286043.2:c.567+140_567+145del NP_001272972.1:n.567+140_567+145del
NM_001286044.2:c.-100+2089_-100+2094del NP_001272973.1:n.-100+2089_-100+2094del