Canonical Allele Identifier: CA913298

Gene: ACADM

Linked Data

• dbSNP Id: rs767409796
• ExAC: 1:76227109 GACA / G
• gnomAD v2: 1-76227109-GACA-G
• gnomAD v3: 1-75761424-GACA-G
• gnomAD v4: 1-75761424-GACA-G
• MyVariant Identifiers: chr1:g.76227110_76227112del (hg19) ; chr1:g.75761425_75761427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761427_75761429del , CM000663.2:g.75761427_75761429del	GRCh38
NC_000001.10:g.76227112_76227114del , CM000663.1:g.76227112_76227114del	GRCh37
NC_000001.9:g.75999700_75999702del	NCBI36
NG_007045.2:g.42070_42072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1194+57_1194+59del MANE Select	ENSP00000359878.5:n.1194+57_1194+59del
ENST00000473018.3:n.3318+57_3318+59del
ENST00000532207.6:n.2262_2264del
ENST00000541113.6:c.1098+57_1098+59del	ENSP00000442324.2:n.1098+57_1098+59del
ENST00000679509.1:n.2213_2215del
ENST00000679530.1:c.*962+57_*962+59del	ENSP00000506454.1:n.*962+57_*962+59del
ENST00000679615.1:n.3266_3268del
ENST00000679687.1:c.756+57_756+59del	ENSP00000506598.1:n.756+57_756+59del
ENST00000679704.1:c.*960+57_*960+59del	ENSP00000505117.1:n.*960+57_*960+59del
ENST00000679709.1:c.*1157+57_*1157+59del	ENSP00000506623.1:n.*1157+57_*1157+59del
ENST00000679976.1:c.*778+57_*778+59del	ENSP00000505565.1:n.*778+57_*778+59del
ENST00000680166.1:n.4483+57_4483+59del
ENST00000680315.1:n.1134_1136del
ENST00000680517.1:c.*639_*641del	ENSP00000505803.1:n.*639_*641del
ENST00000680582.1:n.2156+57_2156+59del
ENST00000680613.1:c.*687+57_*687+59del	ENSP00000506114.1:n.*687+57_*687+59del
ENST00000680662.1:c.*1108+57_*1108+59del	ENSP00000505080.1:n.*1108+57_*1108+59del
ENST00000680691.1:c.*857+57_*857+59del	ENSP00000506487.1:n.*857+57_*857+59del
ENST00000680694.1:c.*782+57_*782+59del	ENSP00000505658.1:n.*782+57_*782+59del
ENST00000680743.1:c.*983+57_*983+59del	ENSP00000505073.1:n.*983+57_*983+59del
ENST00000680749.1:c.*479+57_*479+59del	ENSP00000505122.1:n.*479+57_*479+59del
ENST00000680798.1:c.*726_*728del	ENSP00000505670.1:n.*726_*728del
ENST00000680805.1:c.1053+57_1053+59del	ENSP00000505447.1:n.1053+57_1053+59del
ENST00000680844.1:c.*1035_*1037del	ENSP00000506541.1:n.*1035_*1037del
ENST00000680948.1:c.*1061+57_*1061+59del	ENSP00000505441.1:n.*1061+57_*1061+59del
ENST00000680964.1:c.*344_*346del	ENSP00000505961.1:n.*344_*346del
ENST00000681037.1:c.*2678+57_*2678+59del	ENSP00000506025.1:n.*2678+57_*2678+59del
ENST00000681063.1:c.*463+57_*463+59del	ENSP00000506616.1:n.*463+57_*463+59del
ENST00000681209.1:c.*849+57_*849+59del	ENSP00000505877.1:n.*849+57_*849+59del
ENST00000681278.1:n.1896+57_1896+59del
ENST00000681289.1:n.5189+57_5189+59del
ENST00000681361.1:c.*918_*920del	ENSP00000506679.1:n.*918_*920del
ENST00000681430.1:c.*287+57_*287+59del	ENSP00000506301.1:n.*287+57_*287+59del
ENST00000681446.1:c.*955_*957del	ENSP00000506244.1:n.*955_*957del
ENST00000681450.1:c.*865+57_*865+59del	ENSP00000505660.1:n.*865+57_*865+59del
ENST00000681548.1:c.*837_*839del	ENSP00000505275.1:n.*837_*839del
ENST00000681616.1:c.*910_*912del	ENSP00000505111.1:n.*910_*912del
ENST00000681621.1:c.*835_*837del	ENSP00000505770.1:n.*835_*837del
ENST00000681680.1:n.3346_3348del
ENST00000681720.1:c.*649+57_*649+59del	ENSP00000505438.1:n.*649+57_*649+59del
ENST00000681730.1:n.1416+57_1416+59del
ENST00000681790.1:c.936+57_936+59del	ENSP00000505130.1:n.936+57_936+59del
ENST00000681837.1:n.1867_1869del
ENST00000681913.1:n.3440+57_3440+59del
ENST00000681916.1:c.*962+57_*962+59del	ENSP00000506477.1:n.*962+57_*962+59del
ENST00000681930.1:n.3375_3377del
ENST00000370834.9:c.1293+57_1293+59del	ENSP00000359871.5:n.1293+57_1293+59del
ENST00000370841.8:c.1194+57_1194+59del	ENSP00000359878.4:n.1194+57_1194+59del
ENST00000420607.6:c.1206+57_1206+59del	ENSP00000409612.2:n.1206+57_1206+59del
ENST00000481374.1:n.467+57_467+59del
ENST00000525808.5:c.*780+57_*780+59del	ENSP00000434823.1:n.*780+57_*780+59del
ENST00000526129.5:c.*1035_*1037del	ENSP00000434092.1:n.*1035_*1037del
ENST00000526196.5:c.*962+57_*962+59del	ENSP00000431953.1:n.*962+57_*962+59del
ENST00000528016.1:c.160-7750_160-7748del	ENSP00000434284.1:n.160-7750_160-7748del
ENST00000529059.5:n.1103+57_1103+59del
ENST00000541113.5:c.1086+57_1086+59del	ENSP00000442324.1:n.1086+57_1086+59del
NM_000016.5:c.1194+57_1194+59del	NP_000007.1:n.1194+57_1194+59del
NM_001127328.2:c.1206+57_1206+59del	NP_001120800.1:n.1206+57_1206+59del
NM_001286042.1:c.1086+57_1086+59del	NP_001272971.1:n.1086+57_1086+59del
NM_001286043.1:c.1293+57_1293+59del	NP_001272972.1:n.1293+57_1293+59del
NM_001286044.1:c.627+57_627+59del	NP_001272973.1:n.627+57_627+59del
NM_000016.6:c.1194+57_1194+59del MANE Select	NP_000007.1:n.1194+57_1194+59del
NM_001127328.3:c.1206+57_1206+59del	NP_001120800.1:n.1206+57_1206+59del
NM_001286042.2:c.1086+57_1086+59del	NP_001272971.1:n.1086+57_1086+59del
NM_001286043.2:c.1293+57_1293+59del	NP_001272972.1:n.1293+57_1293+59del
NM_001286044.2:c.627+57_627+59del	NP_001272973.1:n.627+57_627+59del