Canonical Allele Identifier: CA2580063241

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2042803
• ClinVar RCV Id: RCV002908206

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749533_75749534dup , CM000663.2:g.75749533_75749534dup	GRCh38
NC_000001.10:g.76215218_76215219dup , CM000663.1:g.76215218_76215219dup	GRCh37
NC_000001.9:g.75987806_75987807dup	NCBI36
NG_007045.2:g.30176_30177dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.823_824dup MANE Select	ENSP00000359878.5:p.Ala276GlufsTer9
ENST00000473018.3:n.2947_2948dup
ENST00000532207.6:n.1712_1713dup
ENST00000541113.6:c.823_824dup	ENSP00000442324.2:p.Ala276GlufsTer22
ENST00000679509.1:n.1785_1786dup
ENST00000679530.1:c.*591_*592dup	ENSP00000506454.1:n.*591_*592dup
ENST00000679615.1:n.2838_2839dup
ENST00000679687.1:c.385_386dup	ENSP00000506598.1:p.Ala130GlufsTer9
ENST00000679704.1:c.*589_*590dup	ENSP00000505117.1:n.*589_*590dup
ENST00000679709.1:c.*786_*787dup	ENSP00000506623.1:n.*786_*787dup
ENST00000679976.1:c.*407_*408dup	ENSP00000505565.1:n.*407_*408dup
ENST00000680166.1:n.4112_4113dup
ENST00000680517.1:c.*211_*212dup	ENSP00000505803.1:n.*211_*212dup
ENST00000680582.1:n.1785_1786dup
ENST00000680613.1:c.*194_*195dup	ENSP00000506114.1:n.*194_*195dup
ENST00000680662.1:c.*737_*738dup	ENSP00000505080.1:n.*737_*738dup
ENST00000680691.1:c.*486_*487dup	ENSP00000506487.1:n.*486_*487dup
ENST00000680694.1:c.*411_*412dup	ENSP00000505658.1:n.*411_*412dup
ENST00000680743.1:c.*490_*491dup	ENSP00000505073.1:n.*490_*491dup
ENST00000680749.1:c.*108_*109dup	ENSP00000505122.1:n.*108_*109dup
ENST00000680798.1:c.*298_*299dup	ENSP00000505670.1:n.*298_*299dup
ENST00000680805.1:c.709-918_709-917dup	ENSP00000505447.1:n.709-918_709-917dup
ENST00000680844.1:c.*607_*608dup	ENSP00000506541.1:n.*607_*608dup
ENST00000680948.1:c.*690_*691dup	ENSP00000505441.1:n.*690_*691dup
ENST00000680964.1:c.823_824dup	ENSP00000505961.1:p.Ala276GlufsTer9
ENST00000681037.1:c.*2307_*2308dup	ENSP00000506025.1:n.*2307_*2308dup
ENST00000681063.1:c.600-918_600-917dup	ENSP00000506616.1:n.600-918_600-917dup
ENST00000681209.1:c.*478_*479dup	ENSP00000505877.1:n.*478_*479dup
ENST00000681278.1:n.1180_1181dup
ENST00000681289.1:n.4818_4819dup
ENST00000681361.1:c.*490_*491dup	ENSP00000506679.1:n.*490_*491dup
ENST00000681430.1:c.823_824dup	ENSP00000506301.1:p.Ala276GlufsTer9
ENST00000681446.1:c.*405_*406dup	ENSP00000506244.1:n.*405_*406dup
ENST00000681450.1:c.*494_*495dup	ENSP00000505660.1:n.*494_*495dup
ENST00000681548.1:c.*409_*410dup	ENSP00000505275.1:n.*409_*410dup
ENST00000681616.1:c.*482_*483dup	ENSP00000505111.1:n.*482_*483dup
ENST00000681621.1:c.*407_*408dup	ENSP00000505770.1:n.*407_*408dup
ENST00000681680.1:n.2918_2919dup
ENST00000681720.1:c.*278_*279dup	ENSP00000505438.1:n.*278_*279dup
ENST00000681730.1:n.1045_1046dup
ENST00000681790.1:c.565_566dup	ENSP00000505130.1:p.Ala190GlufsTer9
ENST00000681837.1:n.1439_1440dup
ENST00000681913.1:n.2947_2948dup
ENST00000681916.1:c.*591_*592dup	ENSP00000506477.1:n.*591_*592dup
ENST00000681930.1:n.2947_2948dup
ENST00000370834.9:c.922_923dup	ENSP00000359871.5:p.Ala309GlufsTer9
ENST00000370841.8:c.823_824dup	ENSP00000359878.4:p.Ala276GlufsTer9
ENST00000420607.6:c.835_836dup	ENSP00000409612.2:p.Ala280GlufsTer9
ENST00000525808.5:c.*409_*410dup	ENSP00000434823.1:n.*409_*410dup
ENST00000526129.5:c.*607_*608dup	ENSP00000434092.1:n.*607_*608dup
ENST00000526196.5:c.*591_*592dup	ENSP00000431953.1:n.*591_*592dup
ENST00000528016.1:c.37_38dup	ENSP00000434284.1:p.Ala14GlufsTer9
ENST00000529059.5:n.732_733dup
ENST00000530953.6:c.*320_*321dup	ENSP00000431372.1:n.*320_*321dup
ENST00000532207.5:n.553_554dup
ENST00000532509.5:c.*587_*588dup	ENSP00000432522.1:n.*587_*588dup
ENST00000534334.5:c.*407_*408dup	ENSP00000435584.1:n.*407_*408dup
ENST00000541113.5:c.715_716dup	ENSP00000442324.1:p.Ala240GlufsTer9
NM_000016.5:c.823_824dup	NP_000007.1:p.Ala276GlufsTer9
NM_001127328.2:c.835_836dup	NP_001120800.1:p.Ala280GlufsTer9
NM_001286042.1:c.715_716dup	NP_001272971.1:p.Ala240GlufsTer9
NM_001286043.1:c.922_923dup	NP_001272972.1:p.Ala309GlufsTer9
NM_001286044.1:c.256_257dup	NP_001272973.1:p.Ala87GlufsTer9
NM_000016.6:c.823_824dup MANE Select	NP_000007.1:p.Ala276GlufsTer9
NM_001127328.3:c.835_836dup	NP_001120800.1:p.Ala280GlufsTer9
NM_001286042.2:c.715_716dup	NP_001272971.1:p.Ala240GlufsTer9
NM_001286043.2:c.922_923dup	NP_001272972.1:p.Ala309GlufsTer9
NM_001286044.2:c.256_257dup	NP_001272973.1:p.Ala87GlufsTer9