Canonical Allele Identifier: CA2499214856

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1068759
• ClinVar RCV Id: RCV001380406
• dbSNP Id: rs2100362899

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75732728del , CM000663.2:g.75732728del	GRCh38
NC_000001.10:g.76198413del , CM000663.1:g.76198413del	GRCh37
NC_000001.9:g.75971001del	NCBI36
NG_007045.2:g.13371del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.203del MANE Select	ENSP00000359878.5:p.Asp68ValfsTer10
ENST00000473018.3:n.560del
ENST00000525881.6:n.560del
ENST00000541113.6:c.203del	ENSP00000442324.2:p.Asp68ValfsTer10
ENST00000679509.1:n.560del
ENST00000679530.1:c.203del	ENSP00000506454.1:p.Asp68ValfsTer9
ENST00000679615.1:n.560del
ENST00000679687.1:c.31-7252del	ENSP00000506598.1:n.31-7252del
ENST00000679704.1:c.115del	ENSP00000505117.1:p.Ile39Ter
ENST00000679709.1:c.*166del	ENSP00000506623.1:n.*166del
ENST00000679804.1:n.124del
ENST00000679976.1:c.203del	ENSP00000505565.1:p.Asp68ValfsTer10
ENST00000680166.1:n.1725del
ENST00000680517.1:c.203del	ENSP00000505803.1:p.Asp68ValfsTer10
ENST00000680582.1:n.560del
ENST00000680613.1:c.203del	ENSP00000506114.1:p.Asp68ValfsTer10
ENST00000680662.1:c.*117del	ENSP00000505080.1:n.*117del
ENST00000680691.1:c.203del	ENSP00000506487.1:p.Asp68ValfsTer6
ENST00000680694.1:c.203del	ENSP00000505658.1:p.Asp68ValfsTer10
ENST00000680743.1:c.115del	ENSP00000505073.1:p.Ile39Ter
ENST00000680749.1:c.203del	ENSP00000505122.1:p.Asp68ValfsTer10
ENST00000680798.1:c.203del	ENSP00000505670.1:p.Asp68ValfsTer10
ENST00000680805.1:c.203del	ENSP00000505447.1:p.Asp68ValfsTer10
ENST00000680844.1:c.115del	ENSP00000506541.1:p.Ile39Ter
ENST00000680948.1:c.115del	ENSP00000505441.1:p.Ile39Ter
ENST00000680964.1:c.203del	ENSP00000505961.1:p.Asp68ValfsTer10
ENST00000681037.1:c.203del	ENSP00000506025.1:p.Asp68ValfsTer10
ENST00000681063.1:c.203del	ENSP00000506616.1:p.Asp68ValfsTer10
ENST00000681209.1:c.203del	ENSP00000505877.1:p.Asp68ValfsTer6
ENST00000681278.1:n.560del
ENST00000681289.1:n.560del
ENST00000681361.1:c.115del	ENSP00000506679.1:p.Ile39Ter
ENST00000681430.1:c.203del	ENSP00000506301.1:p.Asp68ValfsTer10
ENST00000681446.1:c.203del	ENSP00000506244.1:p.Asp68ValfsTer10
ENST00000681450.1:c.115del	ENSP00000505660.1:p.Ile39Ter
ENST00000681548.1:c.115del	ENSP00000505275.1:p.Ile39Ter
ENST00000681616.1:c.115del	ENSP00000505111.1:p.Ile39Ter
ENST00000681621.1:c.203del	ENSP00000505770.1:p.Asp68ValfsTer10
ENST00000681680.1:n.560del
ENST00000681720.1:c.115del	ENSP00000505438.1:p.Ile39Ter
ENST00000681730.1:n.425del
ENST00000681790.1:c.-56del	ENSP00000505130.1:n.-56del
ENST00000681837.1:n.214del
ENST00000681913.1:n.560del
ENST00000681916.1:c.115del	ENSP00000506477.1:p.Ile39Ter
ENST00000681930.1:n.560del
ENST00000370834.9:c.203del	ENSP00000359871.5:p.Asp68ValfsTer10
ENST00000370841.8:c.203del	ENSP00000359878.4:p.Asp68ValfsTer10
ENST00000420607.6:c.215del	ENSP00000409612.2:p.Asp72ValfsTer10
ENST00000473018.2:n.236del
ENST00000525808.5:c.115del	ENSP00000434823.1:p.Ile39Ter
ENST00000525881.5:n.212del
ENST00000526129.5:c.203del	ENSP00000434092.1:p.Asp68ValfsTer15
ENST00000526196.5:c.115del	ENSP00000431953.1:p.Ile39Ter
ENST00000529059.5:n.213del
ENST00000530953.6:c.118+4240del	ENSP00000431372.1:n.118+4240del
ENST00000532509.5:c.119-125del	ENSP00000432522.1:n.119-125del
ENST00000534146.5:n.282del
ENST00000534334.5:c.203del	ENSP00000435584.1:p.Asp68ValfsTer10
ENST00000541113.5:c.95del	ENSP00000442324.1:p.Asp32ValfsTer10
NM_000016.5:c.203del	NP_000007.1:p.Asp68ValfsTer10
NM_001127328.2:c.215del	NP_001120800.1:p.Asp72ValfsTer10
NM_001286042.1:c.95del	NP_001272971.1:p.Asp32ValfsTer10
NM_001286043.1:c.203del	NP_001272972.1:p.Asp68ValfsTer10
NM_001286044.1:c.-183del	NP_001272973.1:n.-183del
NM_000016.6:c.203del MANE Select	NP_000007.1:p.Asp68ValfsTer10
NM_001127328.3:c.215del	NP_001120800.1:p.Asp72ValfsTer10
NM_001286042.2:c.95del	NP_001272971.1:p.Asp32ValfsTer10
NM_001286043.2:c.203del	NP_001272972.1:p.Asp68ValfsTer10
NM_001286044.2:c.-183del	NP_001272973.1:n.-183del