Canonical Allele Identifier: CA2739272617

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2854237
• ClinVar RCV Id: RCV003608975

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761362dup , CM000663.2:g.75761362dup	GRCh38
NC_000001.10:g.76227047dup , CM000663.1:g.76227047dup	GRCh37
NC_000001.9:g.75999635dup	NCBI36
NG_007045.2:g.42005dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1186dup MANE Select	ENSP00000359878.5:p.Ile396AsnfsTer6
ENST00000473018.3:n.3310dup
ENST00000532207.6:n.2197dup
ENST00000541113.6:c.1090dup	ENSP00000442324.2:p.Ile364AsnfsTer6
ENST00000679509.1:n.2148dup
ENST00000679530.1:c.*954dup	ENSP00000506454.1:n.*954dup
ENST00000679615.1:n.3201dup
ENST00000679687.1:c.748dup	ENSP00000506598.1:p.Ile250AsnfsTer6
ENST00000679704.1:c.*952dup	ENSP00000505117.1:n.*952dup
ENST00000679709.1:c.*1149dup	ENSP00000506623.1:n.*1149dup
ENST00000679976.1:c.*770dup	ENSP00000505565.1:n.*770dup
ENST00000680166.1:n.4475dup
ENST00000680315.1:n.1069dup
ENST00000680517.1:c.*574dup	ENSP00000505803.1:n.*574dup
ENST00000680582.1:n.2148dup
ENST00000680613.1:c.*679dup	ENSP00000506114.1:n.*679dup
ENST00000680662.1:c.*1100dup	ENSP00000505080.1:n.*1100dup
ENST00000680691.1:c.*849dup	ENSP00000506487.1:n.*849dup
ENST00000680694.1:c.*774dup	ENSP00000505658.1:n.*774dup
ENST00000680743.1:c.*975dup	ENSP00000505073.1:n.*975dup
ENST00000680749.1:c.*471dup	ENSP00000505122.1:n.*471dup
ENST00000680798.1:c.*661dup	ENSP00000505670.1:n.*661dup
ENST00000680805.1:c.1045dup	ENSP00000505447.1:p.Ile349AsnfsTer6
ENST00000680844.1:c.*970dup	ENSP00000506541.1:n.*970dup
ENST00000680948.1:c.*1053dup	ENSP00000505441.1:n.*1053dup
ENST00000680964.1:c.*279dup	ENSP00000505961.1:n.*279dup
ENST00000681037.1:c.*2670dup	ENSP00000506025.1:n.*2670dup
ENST00000681063.1:c.*455dup	ENSP00000506616.1:n.*455dup
ENST00000681209.1:c.*841dup	ENSP00000505877.1:n.*841dup
ENST00000681278.1:n.1888dup
ENST00000681289.1:n.5181dup
ENST00000681361.1:c.*853dup	ENSP00000506679.1:n.*853dup
ENST00000681430.1:c.*279dup	ENSP00000506301.1:n.*279dup
ENST00000681446.1:c.*890dup	ENSP00000506244.1:n.*890dup
ENST00000681450.1:c.*857dup	ENSP00000505660.1:n.*857dup
ENST00000681548.1:c.*772dup	ENSP00000505275.1:n.*772dup
ENST00000681616.1:c.*845dup	ENSP00000505111.1:n.*845dup
ENST00000681621.1:c.*770dup	ENSP00000505770.1:n.*770dup
ENST00000681680.1:n.3281dup
ENST00000681720.1:c.*641dup	ENSP00000505438.1:n.*641dup
ENST00000681730.1:n.1408dup
ENST00000681790.1:c.928dup	ENSP00000505130.1:p.Ile310AsnfsTer6
ENST00000681837.1:n.1802dup
ENST00000681913.1:n.3432dup
ENST00000681916.1:c.*954dup	ENSP00000506477.1:n.*954dup
ENST00000681930.1:n.3310dup
ENST00000370834.9:c.1285dup	ENSP00000359871.5:p.Ile429AsnfsTer6
ENST00000370841.8:c.1186dup	ENSP00000359878.4:p.Ile396AsnfsTer6
ENST00000420607.6:c.1198dup	ENSP00000409612.2:p.Ile400AsnfsTer6
ENST00000481374.1:n.459dup
ENST00000525808.5:c.*772dup	ENSP00000434823.1:n.*772dup
ENST00000526129.5:c.*970dup	ENSP00000434092.1:n.*970dup
ENST00000526196.5:c.*954dup	ENSP00000431953.1:n.*954dup
ENST00000528016.1:c.160-7815dup	ENSP00000434284.1:n.160-7815dup
ENST00000529059.5:n.1095dup
ENST00000541113.5:c.1078dup	ENSP00000442324.1:p.Ile360AsnfsTer6
NM_000016.5:c.1186dup	NP_000007.1:p.Ile396AsnfsTer6
NM_001127328.2:c.1198dup	NP_001120800.1:p.Ile400AsnfsTer6
NM_001286042.1:c.1078dup	NP_001272971.1:p.Ile360AsnfsTer6
NM_001286043.1:c.1285dup	NP_001272972.1:p.Ile429AsnfsTer6
NM_001286044.1:c.619dup	NP_001272973.1:p.Ile207AsnfsTer6
NM_000016.6:c.1186dup MANE Select	NP_000007.1:p.Ile396AsnfsTer6
NM_001127328.3:c.1198dup	NP_001120800.1:p.Ile400AsnfsTer6
NM_001286042.2:c.1078dup	NP_001272971.1:p.Ile360AsnfsTer6
NM_001286043.2:c.1285dup	NP_001272972.1:p.Ile429AsnfsTer6
NM_001286044.2:c.619dup	NP_001272973.1:p.Ile207AsnfsTer6