Canonical Allele Identifier: CA273882
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 188719
dbSNP Id: rs786204424

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75733629del , CM000663.2:g.75733629del GRCh38
NC_000001.10:g.76199314del , CM000663.1:g.76199314del GRCh37
NC_000001.9:g.75971902del NCBI36
NG_007045.2:g.14272del

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.387+1del
ENST00000473018.3:n.1350del
ENST00000525881.6:n.1349+1del
ENST00000541113.6:c.387+1del
ENST00000679509.1:n.1349+1del
ENST00000679530.1:c.*155+1del
ENST00000679615.1:n.1350del
ENST00000679687.1:c.31-6351del ENSP00000506598.1:p.=
ENST00000679704.1:c.*153+480del ENSP00000505117.1:p.=
ENST00000679709.1:c.*350+1del
ENST00000679804.1:n.207+707del
ENST00000679976.1:c.286+707del ENSP00000505565.1:p.=
ENST00000680166.1:n.2515del
ENST00000680517.1:c.286+707del ENSP00000505803.1:p.=
ENST00000680582.1:n.1349+1del
ENST00000680613.1:c.387+1del
ENST00000680662.1:c.*301+1del
ENST00000680691.1:c.*50+707del ENSP00000506487.1:p.=
ENST00000680694.1:c.286+707del ENSP00000505658.1:p.=
ENST00000680743.1:c.*54+707del ENSP00000505073.1:p.=
ENST00000680749.1:c.387+1del
ENST00000680798.1:c.286+707del ENSP00000505670.1:p.=
ENST00000680805.1:c.387+1del
ENST00000680844.1:c.*171+1del
ENST00000680948.1:c.*254+1del
ENST00000680964.1:c.387+1del
ENST00000681037.1:c.387+1del
ENST00000681063.1:c.387+1del
ENST00000681209.1:c.*151+1del
ENST00000681278.1:n.744+1del
ENST00000681289.1:n.744+1del
ENST00000681361.1:c.*54+707del ENSP00000506679.1:p.=
ENST00000681430.1:c.387+1del
ENST00000681446.1:c.286+707del ENSP00000506244.1:p.=
ENST00000681450.1:c.*54+707del ENSP00000505660.1:p.=
ENST00000681548.1:c.*54+707del ENSP00000505275.1:p.=
ENST00000681616.1:c.*155+1del
ENST00000681621.1:c.286+707del ENSP00000505770.1:p.=
ENST00000681680.1:n.1350del
ENST00000681720.1:c.*54+707del ENSP00000505438.1:p.=
ENST00000681730.1:n.609+1del
ENST00000681790.1:c.129+1del
ENST00000681837.1:n.1003+1del
ENST00000681913.1:n.1350del
ENST00000681916.1:c.*155+1del
ENST00000681930.1:n.1350del
ENST00000370834.9:c.486+1del
ENST00000370841.8:c.387+1del
ENST00000420607.6:c.399+1del
ENST00000525808.5:c.*54+707del ENSP00000434823.1:p.=
ENST00000526129.5:c.*171+1del
ENST00000526196.5:c.*155+1del
ENST00000529059.5:n.296+707del
ENST00000530953.6:c.118+5141del ENSP00000431372.1:p.=
ENST00000532509.5:c.*151+1del
ENST00000534334.5:c.286+707del ENSP00000435584.1:p.=
ENST00000541113.5:c.279+1del
NM_000016.5:c.387+1del
NM_001127328.2:c.399+1del
NM_001286042.1:c.279+1del
NM_001286043.1:c.486+1del
NM_001286044.1:c.-100+707del NP_001272973.1:p.=
NM_000016.6:c.387+1del
NM_001127328.3:c.399+1del
NM_001286042.2:c.279+1del
NM_001286043.2:c.486+1del
NM_001286044.2:c.-100+707del NP_001272973.1:p.=