Canonical Allele Identifier: CA2573132605

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1677079
• ClinVar RCV Id: RCV002222937
• dbSNP Id: rs2100365750
• gnomAD v4: 1-75733547-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75733547_75733548insG , CM000663.2:g.75733547_75733548insG	GRCh38
NC_000001.10:g.76199232_76199233insG , CM000663.1:g.76199232_76199233insG	GRCh37
NC_000001.9:g.75971820_75971821insG	NCBI36
NG_007045.2:g.14190_14191insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.306_307insG MANE Select	ENSP00000359878.5:p.Phe103ValfsTer2
ENST00000473018.3:n.1268_1269insG
ENST00000525881.6:n.1268_1269insG
ENST00000541113.6:c.306_307insG	ENSP00000442324.2:p.Phe103ValfsTer2
ENST00000679509.1:n.1268_1269insG
ENST00000679530.1:c.*74_*75insG	ENSP00000506454.1:n.*74_*75insG
ENST00000679615.1:n.1268_1269insG
ENST00000679687.1:c.31-6433_31-6432insG	ENSP00000506598.1:n.31-6433_31-6432insG
ENST00000679704.1:c.*153+398_*153+399insG	ENSP00000505117.1:n.*153+398_*153+399insG
ENST00000679709.1:c.*269_*270insG	ENSP00000506623.1:n.*269_*270insG
ENST00000679804.1:n.207+625_207+626insG
ENST00000679976.1:c.286+625_286+626insG	ENSP00000505565.1:n.286+625_286+626insG
ENST00000680166.1:n.2433_2434insG
ENST00000680517.1:c.286+625_286+626insG	ENSP00000505803.1:n.286+625_286+626insG
ENST00000680582.1:n.1268_1269insG
ENST00000680613.1:c.306_307insG	ENSP00000506114.1:p.Phe103ValfsTer2
ENST00000680662.1:c.*220_*221insG	ENSP00000505080.1:n.*220_*221insG
ENST00000680691.1:c.*50+625_*50+626insG	ENSP00000506487.1:n.*50+625_*50+626insG
ENST00000680694.1:c.286+625_286+626insG	ENSP00000505658.1:n.286+625_286+626insG
ENST00000680743.1:c.*54+625_*54+626insG	ENSP00000505073.1:n.*54+625_*54+626insG
ENST00000680749.1:c.306_307insG	ENSP00000505122.1:p.Phe103ValfsTer2
ENST00000680798.1:c.286+625_286+626insG	ENSP00000505670.1:n.286+625_286+626insG
ENST00000680805.1:c.306_307insG	ENSP00000505447.1:p.Phe103ValfsTer2
ENST00000680844.1:c.*90_*91insG	ENSP00000506541.1:n.*90_*91insG
ENST00000680948.1:c.*173_*174insG	ENSP00000505441.1:n.*173_*174insG
ENST00000680964.1:c.306_307insG	ENSP00000505961.1:p.Phe103ValfsTer2
ENST00000681037.1:c.306_307insG	ENSP00000506025.1:p.Phe103ValfsTer2
ENST00000681063.1:c.306_307insG	ENSP00000506616.1:p.Phe103ValfsTer2
ENST00000681209.1:c.*70_*71insG	ENSP00000505877.1:n.*70_*71insG
ENST00000681278.1:n.663_664insG
ENST00000681289.1:n.663_664insG
ENST00000681361.1:c.*54+625_*54+626insG	ENSP00000506679.1:n.*54+625_*54+626insG
ENST00000681430.1:c.306_307insG	ENSP00000506301.1:p.Phe103ValfsTer2
ENST00000681446.1:c.286+625_286+626insG	ENSP00000506244.1:n.286+625_286+626insG
ENST00000681450.1:c.*54+625_*54+626insG	ENSP00000505660.1:n.*54+625_*54+626insG
ENST00000681548.1:c.*54+625_*54+626insG	ENSP00000505275.1:n.*54+625_*54+626insG
ENST00000681616.1:c.*74_*75insG	ENSP00000505111.1:n.*74_*75insG
ENST00000681621.1:c.286+625_286+626insG	ENSP00000505770.1:n.286+625_286+626insG
ENST00000681680.1:n.1268_1269insG
ENST00000681720.1:c.*54+625_*54+626insG	ENSP00000505438.1:n.*54+625_*54+626insG
ENST00000681730.1:n.528_529insG
ENST00000681790.1:c.48_49insG	ENSP00000505130.1:p.Phe17ValfsTer2
ENST00000681837.1:n.922_923insG
ENST00000681913.1:n.1268_1269insG
ENST00000681916.1:c.*74_*75insG	ENSP00000506477.1:n.*74_*75insG
ENST00000681930.1:n.1268_1269insG
ENST00000370834.9:c.405_406insG	ENSP00000359871.5:p.Phe136ValfsTer2
ENST00000370841.8:c.306_307insG	ENSP00000359878.4:p.Phe103ValfsTer2
ENST00000420607.6:c.318_319insG	ENSP00000409612.2:p.Phe107ValfsTer2
ENST00000525808.5:c.*54+625_*54+626insG	ENSP00000434823.1:n.*54+625_*54+626insG
ENST00000526129.5:c.*90_*91insG	ENSP00000434092.1:n.*90_*91insG
ENST00000526196.5:c.*74_*75insG	ENSP00000431953.1:n.*74_*75insG
ENST00000529059.5:n.296+625_296+626insG
ENST00000530953.6:c.118+5059_118+5060insG	ENSP00000431372.1:n.118+5059_118+5060insG
ENST00000532509.5:c.*70_*71insG	ENSP00000432522.1:n.*70_*71insG
ENST00000534334.5:c.286+625_286+626insG	ENSP00000435584.1:n.286+625_286+626insG
ENST00000541113.5:c.198_199insG	ENSP00000442324.1:p.Phe67ValfsTer2
NM_000016.5:c.306_307insG	NP_000007.1:p.Phe103ValfsTer2
NM_001127328.2:c.318_319insG	NP_001120800.1:p.Phe107ValfsTer2
NM_001286042.1:c.198_199insG	NP_001272971.1:p.Phe67ValfsTer2
NM_001286043.1:c.405_406insG	NP_001272972.1:p.Phe136ValfsTer2
NM_001286044.1:c.-100+625_-100+626insG	NP_001272973.1:n.-100+625_-100+626insG
NM_000016.6:c.306_307insG MANE Select	NP_000007.1:p.Phe103ValfsTer2
NM_001127328.3:c.318_319insG	NP_001120800.1:p.Phe107ValfsTer2
NM_001286042.2:c.198_199insG	NP_001272971.1:p.Phe67ValfsTer2
NM_001286043.2:c.405_406insG	NP_001272972.1:p.Phe136ValfsTer2
NM_001286044.2:c.-100+625_-100+626insG	NP_001272973.1:n.-100+625_-100+626insG