Canonical Allele Identifier: CA523817186

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2679950
• ClinVar RCV Id: RCV003465013
• dbSNP Id: rs1309892323
• gnomAD v2: 1-76205762-AG-A
• gnomAD v4: 1-75740077-AG-A
• MyVariant Identifiers: chr1:g.76205763del (hg19) ; chr1:g.75740078del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740078del , CM000663.2:g.75740078del	GRCh38
NC_000001.10:g.76205763del , CM000663.1:g.76205763del	GRCh37
NC_000001.9:g.75978351del	NCBI36
NG_007045.2:g.20721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.567del MANE Select	ENSP00000359878.5:p.Met190CysfsTer3
ENST00000473018.3:n.2691del
ENST00000541113.6:c.567del	ENSP00000442324.2:p.Met190CysfsTer3
ENST00000679509.1:n.1529del
ENST00000679530.1:c.*335del	ENSP00000506454.1:n.*335del
ENST00000679615.1:n.2691del
ENST00000679687.1:c.129del	ENSP00000506598.1:p.Met44CysfsTer3
ENST00000679704.1:c.*333del	ENSP00000505117.1:n.*333del
ENST00000679709.1:c.*530del	ENSP00000506623.1:n.*530del
ENST00000679804.1:n.306del
ENST00000679976.1:c.*151del	ENSP00000505565.1:n.*151del
ENST00000680166.1:n.3856del
ENST00000680517.1:c.*64del	ENSP00000505803.1:n.*64del
ENST00000680582.1:n.1529del
ENST00000680613.1:c.567del	ENSP00000506114.1:p.Met190CysfsTer3
ENST00000680662.1:c.*481del	ENSP00000505080.1:n.*481del
ENST00000680691.1:c.*230del	ENSP00000506487.1:n.*230del
ENST00000680694.1:c.*155del	ENSP00000505658.1:n.*155del
ENST00000680743.1:c.*234del	ENSP00000505073.1:n.*234del
ENST00000680749.1:c.567del	ENSP00000505122.1:p.Met190CysfsTer3
ENST00000680798.1:c.*151del	ENSP00000505670.1:n.*151del
ENST00000680805.1:c.567del	ENSP00000505447.1:p.Met190CysfsTer3
ENST00000680844.1:c.*351del	ENSP00000506541.1:n.*351del
ENST00000680948.1:c.*434del	ENSP00000505441.1:n.*434del
ENST00000680964.1:c.567del	ENSP00000505961.1:p.Met190CysfsTer3
ENST00000681037.1:c.567del	ENSP00000506025.1:p.Met190CysfsTer3
ENST00000681063.1:c.567del	ENSP00000506616.1:p.Met190CysfsTer3
ENST00000681209.1:c.*331del	ENSP00000505877.1:n.*331del
ENST00000681278.1:n.924del
ENST00000681289.1:n.924del
ENST00000681361.1:c.*234del	ENSP00000506679.1:n.*234del
ENST00000681430.1:c.567del	ENSP00000506301.1:p.Met190CysfsTer3
ENST00000681446.1:c.*149del	ENSP00000506244.1:n.*149del
ENST00000681450.1:c.*238del	ENSP00000505660.1:n.*238del
ENST00000681548.1:c.*153del	ENSP00000505275.1:n.*153del
ENST00000681616.1:c.*335del	ENSP00000505111.1:n.*335del
ENST00000681621.1:c.*151del	ENSP00000505770.1:n.*151del
ENST00000681680.1:n.2691del
ENST00000681720.1:c.*55-5728del	ENSP00000505438.1:n.*55-5728del
ENST00000681730.1:n.789del
ENST00000681790.1:c.309del	ENSP00000505130.1:p.Met104CysfsTer3
ENST00000681837.1:n.1183del
ENST00000681913.1:n.2691del
ENST00000681916.1:c.*335del	ENSP00000506477.1:n.*335del
ENST00000681930.1:n.2691del
ENST00000370834.9:c.666del	ENSP00000359871.5:p.Met223CysfsTer3
ENST00000370841.8:c.567del	ENSP00000359878.4:p.Met190CysfsTer3
ENST00000420607.6:c.579del	ENSP00000409612.2:p.Met194CysfsTer3
ENST00000525808.5:c.*153del	ENSP00000434823.1:n.*153del
ENST00000526129.5:c.*351del	ENSP00000434092.1:n.*351del
ENST00000526196.5:c.*335del	ENSP00000431953.1:n.*335del
ENST00000526930.1:n.340del
ENST00000529059.5:n.476del
ENST00000530953.6:c.*64del	ENSP00000431372.1:n.*64del
ENST00000532509.5:c.*331del	ENSP00000432522.1:n.*331del
ENST00000534334.5:c.*151del	ENSP00000435584.1:n.*151del
ENST00000541113.5:c.459del	ENSP00000442324.1:p.Met154CysfsTer3
NM_000016.5:c.567del	NP_000007.1:p.Met190CysfsTer3
NM_001127328.2:c.579del	NP_001120800.1:p.Met194CysfsTer3
NM_001286042.1:c.459del	NP_001272971.1:p.Met154CysfsTer3
NM_001286043.1:c.666del	NP_001272972.1:p.Met223CysfsTer3
NM_001286044.1:c.-1del	NP_001272973.1:n.-1del
NM_000016.6:c.567del MANE Select	NP_000007.1:p.Met190CysfsTer3
NM_001127328.3:c.579del	NP_001120800.1:p.Met194CysfsTer3
NM_001286042.2:c.459del	NP_001272971.1:p.Met154CysfsTer3
NM_001286043.2:c.666del	NP_001272972.1:p.Met223CysfsTer3
NM_001286044.2:c.-1del	NP_001272973.1:n.-1del