Canonical Allele Identifier: CA916082038

Gene: ACADM

Linked Data

• ClinVar Variation Id: 849706
• ClinVar RCV Id: RCV001053726
• dbSNP Id: rs1647188308

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75733574_75733586del , CM000663.2:g.75733574_75733586del	GRCh38
NC_000001.10:g.76199259_76199271del , CM000663.1:g.76199259_76199271del	GRCh37
NC_000001.9:g.75971847_75971859del	NCBI36
NG_007045.2:g.14217_14229del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.333_345del MANE Select	ENSP00000359878.5:p.Glu111AspfsTer?
ENST00000473018.3:n.1295_1307del
ENST00000525881.6:n.1295_1307del
ENST00000541113.6:c.333_345del	ENSP00000442324.2:p.Glu111AspfsTer?
ENST00000679509.1:n.1295_1307del
ENST00000679530.1:c.*101_*113del	ENSP00000506454.1:n.*101_*113del
ENST00000679615.1:n.1295_1307del
ENST00000679687.1:c.31-6406_31-6394del	ENSP00000506598.1:n.31-6406_31-6394del
ENST00000679704.1:c.*153+425_*153+437del	ENSP00000505117.1:n.*153+425_*153+437del
ENST00000679709.1:c.*296_*308del	ENSP00000506623.1:n.*296_*308del
ENST00000679804.1:n.207+652_207+664del
ENST00000679976.1:c.286+652_286+664del	ENSP00000505565.1:n.286+652_286+664del
ENST00000680166.1:n.2460_2472del
ENST00000680517.1:c.286+652_286+664del	ENSP00000505803.1:n.286+652_286+664del
ENST00000680582.1:n.1295_1307del
ENST00000680613.1:c.333_345del	ENSP00000506114.1:p.Glu111AspfsTer?
ENST00000680662.1:c.*247_*259del	ENSP00000505080.1:n.*247_*259del
ENST00000680691.1:c.*50+652_*50+664del	ENSP00000506487.1:n.*50+652_*50+664del
ENST00000680694.1:c.286+652_286+664del	ENSP00000505658.1:n.286+652_286+664del
ENST00000680743.1:c.*54+652_*54+664del	ENSP00000505073.1:n.*54+652_*54+664del
ENST00000680749.1:c.333_345del	ENSP00000505122.1:p.Glu111AspfsTer?
ENST00000680798.1:c.286+652_286+664del	ENSP00000505670.1:n.286+652_286+664del
ENST00000680805.1:c.333_345del	ENSP00000505447.1:p.Glu111AspfsTer?
ENST00000680844.1:c.*117_*129del	ENSP00000506541.1:n.*117_*129del
ENST00000680948.1:c.*200_*212del	ENSP00000505441.1:n.*200_*212del
ENST00000680964.1:c.333_345del	ENSP00000505961.1:p.Glu111AspfsTer?
ENST00000681037.1:c.333_345del	ENSP00000506025.1:p.Glu111AspfsTer?
ENST00000681063.1:c.333_345del	ENSP00000506616.1:p.Glu111AspfsTer?
ENST00000681209.1:c.*97_*109del	ENSP00000505877.1:n.*97_*109del
ENST00000681278.1:n.690_702del
ENST00000681289.1:n.690_702del
ENST00000681361.1:c.*54+652_*54+664del	ENSP00000506679.1:n.*54+652_*54+664del
ENST00000681430.1:c.333_345del	ENSP00000506301.1:p.Glu111AspfsTer?
ENST00000681446.1:c.286+652_286+664del	ENSP00000506244.1:n.286+652_286+664del
ENST00000681450.1:c.*54+652_*54+664del	ENSP00000505660.1:n.*54+652_*54+664del
ENST00000681548.1:c.*54+652_*54+664del	ENSP00000505275.1:n.*54+652_*54+664del
ENST00000681616.1:c.*101_*113del	ENSP00000505111.1:n.*101_*113del
ENST00000681621.1:c.286+652_286+664del	ENSP00000505770.1:n.286+652_286+664del
ENST00000681680.1:n.1295_1307del
ENST00000681720.1:c.*54+652_*54+664del	ENSP00000505438.1:n.*54+652_*54+664del
ENST00000681730.1:n.555_567del
ENST00000681790.1:c.75_87del	ENSP00000505130.1:p.Glu25AspfsTer?
ENST00000681837.1:n.949_961del
ENST00000681913.1:n.1295_1307del
ENST00000681916.1:c.*101_*113del	ENSP00000506477.1:n.*101_*113del
ENST00000681930.1:n.1295_1307del
ENST00000370834.9:c.432_444del	ENSP00000359871.5:p.Glu144AspfsTer?
ENST00000370841.8:c.333_345del	ENSP00000359878.4:p.Glu111AspfsTer?
ENST00000420607.6:c.345_357del	ENSP00000409612.2:p.Glu115AspfsTer?
ENST00000525808.5:c.*54+652_*54+664del	ENSP00000434823.1:n.*54+652_*54+664del
ENST00000526129.5:c.*117_*129del	ENSP00000434092.1:n.*117_*129del
ENST00000526196.5:c.*101_*113del	ENSP00000431953.1:n.*101_*113del
ENST00000529059.5:n.296+652_296+664del
ENST00000530953.6:c.118+5086_118+5098del	ENSP00000431372.1:n.118+5086_118+5098del
ENST00000532509.5:c.*97_*109del	ENSP00000432522.1:n.*97_*109del
ENST00000534334.5:c.286+652_286+664del	ENSP00000435584.1:n.286+652_286+664del
ENST00000541113.5:c.225_237del	ENSP00000442324.1:p.Glu75AspfsTer?
NM_000016.5:c.333_345del	NP_000007.1:p.Glu111AspfsTer?
NM_001127328.2:c.345_357del	NP_001120800.1:p.Glu115AspfsTer?
NM_001286042.1:c.225_237del	NP_001272971.1:p.Glu75AspfsTer?
NM_001286043.1:c.432_444del	NP_001272972.1:p.Glu144AspfsTer?
NM_001286044.1:c.-100+652_-100+664del	NP_001272973.1:n.-100+652_-100+664del
NM_000016.6:c.333_345del MANE Select	NP_000007.1:p.Glu111AspfsTer?
NM_001127328.3:c.345_357del	NP_001120800.1:p.Glu115AspfsTer?
NM_001286042.2:c.225_237del	NP_001272971.1:p.Glu75AspfsTer?
NM_001286043.2:c.432_444del	NP_001272972.1:p.Glu144AspfsTer?
NM_001286044.2:c.-100+652_-100+664del	NP_001272973.1:n.-100+652_-100+664del