Canonical Allele Identifier: CA2573132603

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1568183
• ClinVar RCV Id: RCV002210332
• dbSNP Id: rs2100363808

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75732931_75732932insTTTTT , CM000663.2:g.75732931_75732932insTTTTT	GRCh38
NC_000001.10:g.76198616_76198617insTTTTT , CM000663.1:g.76198616_76198617insTTTTT	GRCh37
NC_000001.9:g.75971204_75971205insTTTTT	NCBI36
NG_007045.2:g.13574_13575insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.286+9_286+10insTTTTT MANE Select	ENSP00000359878.5:n.286+9_286+10insTTTTT
ENST00000473018.3:n.652_653insTTTTT
ENST00000525881.6:n.652_653insTTTTT
ENST00000541113.6:c.286+9_286+10insTTTTT	ENSP00000442324.2:n.286+9_286+10insTTTTT
ENST00000679509.1:n.652_653insTTTTT
ENST00000679530.1:c.*54+9_*54+10insTTTTT	ENSP00000506454.1:n.*54+9_*54+10insTTTTT
ENST00000679615.1:n.652_653insTTTTT
ENST00000679687.1:c.31-7049_31-7048insTTTTT	ENSP00000506598.1:n.31-7049_31-7048insTTTTT
ENST00000679704.1:c.*54+9_*54+10insTTTTT	ENSP00000505117.1:n.*54+9_*54+10insTTTTT
ENST00000679709.1:c.*249+9_*249+10insTTTTT	ENSP00000506623.1:n.*249+9_*249+10insTTTTT
ENST00000679804.1:n.207+9_207+10insTTTTT
ENST00000679976.1:c.286+9_286+10insTTTTT	ENSP00000505565.1:n.286+9_286+10insTTTTT
ENST00000680166.1:n.1817_1818insTTTTT
ENST00000680517.1:c.286+9_286+10insTTTTT	ENSP00000505803.1:n.286+9_286+10insTTTTT
ENST00000680582.1:n.652_653insTTTTT
ENST00000680613.1:c.286+9_286+10insTTTTT	ENSP00000506114.1:n.286+9_286+10insTTTTT
ENST00000680662.1:c.*200+9_*200+10insTTTTT	ENSP00000505080.1:n.*200+9_*200+10insTTTTT
ENST00000680691.1:c.*50+9_*50+10insTTTTT	ENSP00000506487.1:n.*50+9_*50+10insTTTTT
ENST00000680694.1:c.286+9_286+10insTTTTT	ENSP00000505658.1:n.286+9_286+10insTTTTT
ENST00000680743.1:c.*54+9_*54+10insTTTTT	ENSP00000505073.1:n.*54+9_*54+10insTTTTT
ENST00000680749.1:c.286+9_286+10insTTTTT	ENSP00000505122.1:n.286+9_286+10insTTTTT
ENST00000680798.1:c.286+9_286+10insTTTTT	ENSP00000505670.1:n.286+9_286+10insTTTTT
ENST00000680805.1:c.286+9_286+10insTTTTT	ENSP00000505447.1:n.286+9_286+10insTTTTT
ENST00000680844.1:c.*70+9_*70+10insTTTTT	ENSP00000506541.1:n.*70+9_*70+10insTTTTT
ENST00000680948.1:c.*54+9_*54+10insTTTTT	ENSP00000505441.1:n.*54+9_*54+10insTTTTT
ENST00000680964.1:c.286+9_286+10insTTTTT	ENSP00000505961.1:n.286+9_286+10insTTTTT
ENST00000681037.1:c.286+9_286+10insTTTTT	ENSP00000506025.1:n.286+9_286+10insTTTTT
ENST00000681063.1:c.286+9_286+10insTTTTT	ENSP00000506616.1:n.286+9_286+10insTTTTT
ENST00000681209.1:c.*50+9_*50+10insTTTTT	ENSP00000505877.1:n.*50+9_*50+10insTTTTT
ENST00000681278.1:n.643+9_643+10insTTTTT
ENST00000681289.1:n.643+9_643+10insTTTTT
ENST00000681361.1:c.*54+9_*54+10insTTTTT	ENSP00000506679.1:n.*54+9_*54+10insTTTTT
ENST00000681430.1:c.286+9_286+10insTTTTT	ENSP00000506301.1:n.286+9_286+10insTTTTT
ENST00000681446.1:c.286+9_286+10insTTTTT	ENSP00000506244.1:n.286+9_286+10insTTTTT
ENST00000681450.1:c.*54+9_*54+10insTTTTT	ENSP00000505660.1:n.*54+9_*54+10insTTTTT
ENST00000681548.1:c.*54+9_*54+10insTTTTT	ENSP00000505275.1:n.*54+9_*54+10insTTTTT
ENST00000681616.1:c.*54+9_*54+10insTTTTT	ENSP00000505111.1:n.*54+9_*54+10insTTTTT
ENST00000681621.1:c.286+9_286+10insTTTTT	ENSP00000505770.1:n.286+9_286+10insTTTTT
ENST00000681680.1:n.652_653insTTTTT
ENST00000681720.1:c.*54+9_*54+10insTTTTT	ENSP00000505438.1:n.*54+9_*54+10insTTTTT
ENST00000681730.1:n.508+9_508+10insTTTTT
ENST00000681790.1:c.28+9_28+10insTTTTT	ENSP00000505130.1:n.28+9_28+10insTTTTT
ENST00000681837.1:n.306_307insTTTTT
ENST00000681913.1:n.652_653insTTTTT
ENST00000681916.1:c.*54+9_*54+10insTTTTT	ENSP00000506477.1:n.*54+9_*54+10insTTTTT
ENST00000681930.1:n.652_653insTTTTT
ENST00000370834.9:c.286+9_286+10insTTTTT	ENSP00000359871.5:n.286+9_286+10insTTTTT
ENST00000370841.8:c.286+9_286+10insTTTTT	ENSP00000359878.4:n.286+9_286+10insTTTTT
ENST00000420607.6:c.298+9_298+10insTTTTT	ENSP00000409612.2:n.298+9_298+10insTTTTT
ENST00000473018.2:n.328_329insTTTTT
ENST00000525808.5:c.*54+9_*54+10insTTTTT	ENSP00000434823.1:n.*54+9_*54+10insTTTTT
ENST00000525881.5:n.304_305insTTTTT
ENST00000526129.5:c.*70+9_*70+10insTTTTT	ENSP00000434092.1:n.*70+9_*70+10insTTTTT
ENST00000526196.5:c.*54+9_*54+10insTTTTT	ENSP00000431953.1:n.*54+9_*54+10insTTTTT
ENST00000529059.5:n.296+9_296+10insTTTTT
ENST00000530953.6:c.118+4443_118+4444insTTTTT	ENSP00000431372.1:n.118+4443_118+4444insTTTTT
ENST00000532509.5:c.*50+9_*50+10insTTTTT	ENSP00000432522.1:n.*50+9_*50+10insTTTTT
ENST00000534146.5:n.365+9_365+10insTTTTT
ENST00000534334.5:c.286+9_286+10insTTTTT	ENSP00000435584.1:n.286+9_286+10insTTTTT
ENST00000541113.5:c.178+9_178+10insTTTTT	ENSP00000442324.1:n.178+9_178+10insTTTTT
NM_000016.5:c.286+9_286+10insTTTTT	NP_000007.1:n.286+9_286+10insTTTTT
NM_001127328.2:c.298+9_298+10insTTTTT	NP_001120800.1:n.298+9_298+10insTTTTT
NM_001286042.1:c.178+9_178+10insTTTTT	NP_001272971.1:n.178+9_178+10insTTTTT
NM_001286043.1:c.286+9_286+10insTTTTT	NP_001272972.1:n.286+9_286+10insTTTTT
NM_001286044.1:c.-100+9_-100+10insTTTTT	NP_001272973.1:n.-100+9_-100+10insTTTTT
NM_000016.6:c.286+9_286+10insTTTTT MANE Select	NP_000007.1:n.286+9_286+10insTTTTT
NM_001127328.3:c.298+9_298+10insTTTTT	NP_001120800.1:n.298+9_298+10insTTTTT
NM_001286042.2:c.178+9_178+10insTTTTT	NP_001272971.1:n.178+9_178+10insTTTTT
NM_001286043.2:c.286+9_286+10insTTTTT	NP_001272972.1:n.286+9_286+10insTTTTT
NM_001286044.2:c.-100+9_-100+10insTTTTT	NP_001272973.1:n.-100+9_-100+10insTTTTT