Canonical Allele Identifier: CA913274365

Gene: ACADM

Linked Data

• dbSNP Id: rs1557467049
• gnomAD v2: 1-76227029-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761345_75761346del , CM000663.2:g.75761345_75761346del	GRCh38
NC_000001.10:g.76227030_76227031del , CM000663.1:g.76227030_76227031del	GRCh37
NC_000001.9:g.75999618_75999619del	NCBI36
NG_007045.2:g.41988_41989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1169_1170del MANE Select	ENSP00000359878.5:p.Leu390HisfsTer11
ENST00000473018.3:n.3293_3294del
ENST00000532207.6:n.2180_2181del
ENST00000541113.6:c.1073_1074del	ENSP00000442324.2:p.Leu358HisfsTer11
ENST00000679509.1:n.2131_2132del
ENST00000679530.1:c.*937_*938del	ENSP00000506454.1:n.*937_*938del
ENST00000679615.1:n.3184_3185del
ENST00000679687.1:c.731_732del	ENSP00000506598.1:p.Leu244HisfsTer11
ENST00000679704.1:c.*935_*936del	ENSP00000505117.1:n.*935_*936del
ENST00000679709.1:c.*1132_*1133del	ENSP00000506623.1:n.*1132_*1133del
ENST00000679976.1:c.*753_*754del	ENSP00000505565.1:n.*753_*754del
ENST00000680166.1:n.4458_4459del
ENST00000680315.1:n.1052_1053del
ENST00000680517.1:c.*557_*558del	ENSP00000505803.1:n.*557_*558del
ENST00000680582.1:n.2131_2132del
ENST00000680613.1:c.*662_*663del	ENSP00000506114.1:n.*662_*663del
ENST00000680662.1:c.*1083_*1084del	ENSP00000505080.1:n.*1083_*1084del
ENST00000680691.1:c.*832_*833del	ENSP00000506487.1:n.*832_*833del
ENST00000680694.1:c.*757_*758del	ENSP00000505658.1:n.*757_*758del
ENST00000680743.1:c.*958_*959del	ENSP00000505073.1:n.*958_*959del
ENST00000680749.1:c.*454_*455del	ENSP00000505122.1:n.*454_*455del
ENST00000680798.1:c.*644_*645del	ENSP00000505670.1:n.*644_*645del
ENST00000680805.1:c.1028_1029del	ENSP00000505447.1:p.Leu343HisfsTer11
ENST00000680844.1:c.*953_*954del	ENSP00000506541.1:n.*953_*954del
ENST00000680948.1:c.*1036_*1037del	ENSP00000505441.1:n.*1036_*1037del
ENST00000680964.1:c.*262_*263del	ENSP00000505961.1:n.*262_*263del
ENST00000681037.1:c.*2653_*2654del	ENSP00000506025.1:n.*2653_*2654del
ENST00000681063.1:c.*438_*439del	ENSP00000506616.1:n.*438_*439del
ENST00000681209.1:c.*824_*825del	ENSP00000505877.1:n.*824_*825del
ENST00000681278.1:n.1871_1872del
ENST00000681289.1:n.5164_5165del
ENST00000681361.1:c.*836_*837del	ENSP00000506679.1:n.*836_*837del
ENST00000681430.1:c.*262_*263del	ENSP00000506301.1:n.*262_*263del
ENST00000681446.1:c.*873_*874del	ENSP00000506244.1:n.*873_*874del
ENST00000681450.1:c.*840_*841del	ENSP00000505660.1:n.*840_*841del
ENST00000681548.1:c.*755_*756del	ENSP00000505275.1:n.*755_*756del
ENST00000681616.1:c.*828_*829del	ENSP00000505111.1:n.*828_*829del
ENST00000681621.1:c.*753_*754del	ENSP00000505770.1:n.*753_*754del
ENST00000681680.1:n.3264_3265del
ENST00000681720.1:c.*624_*625del	ENSP00000505438.1:n.*624_*625del
ENST00000681730.1:n.1391_1392del
ENST00000681790.1:c.911_912del	ENSP00000505130.1:p.Leu304HisfsTer11
ENST00000681837.1:n.1785_1786del
ENST00000681913.1:n.3415_3416del
ENST00000681916.1:c.*937_*938del	ENSP00000506477.1:n.*937_*938del
ENST00000681930.1:n.3293_3294del
ENST00000370834.9:c.1268_1269del	ENSP00000359871.5:p.Leu423HisfsTer11
ENST00000370841.8:c.1169_1170del	ENSP00000359878.4:p.Leu390HisfsTer11
ENST00000420607.6:c.1181_1182del	ENSP00000409612.2:p.Leu394HisfsTer11
ENST00000481374.1:n.442_443del
ENST00000525808.5:c.*755_*756del	ENSP00000434823.1:n.*755_*756del
ENST00000526129.5:c.*953_*954del	ENSP00000434092.1:n.*953_*954del
ENST00000526196.5:c.*937_*938del	ENSP00000431953.1:n.*937_*938del
ENST00000528016.1:c.160-7832_160-7831del	ENSP00000434284.1:n.160-7832_160-7831del
ENST00000529059.5:n.1078_1079del
ENST00000541113.5:c.1061_1062del	ENSP00000442324.1:p.Leu354HisfsTer11
NM_000016.5:c.1169_1170del	NP_000007.1:p.Leu390HisfsTer11
NM_001127328.2:c.1181_1182del	NP_001120800.1:p.Leu394HisfsTer11
NM_001286042.1:c.1061_1062del	NP_001272971.1:p.Leu354HisfsTer11
NM_001286043.1:c.1268_1269del	NP_001272972.1:p.Leu423HisfsTer11
NM_001286044.1:c.602_603del	NP_001272973.1:p.Leu201HisfsTer11
NM_000016.6:c.1169_1170del MANE Select	NP_000007.1:p.Leu390HisfsTer11
NM_001127328.3:c.1181_1182del	NP_001120800.1:p.Leu394HisfsTer11
NM_001286042.2:c.1061_1062del	NP_001272971.1:p.Leu354HisfsTer11
NM_001286043.2:c.1268_1269del	NP_001272972.1:p.Leu423HisfsTer11
NM_001286044.2:c.602_603del	NP_001272973.1:p.Leu201HisfsTer11