Canonical Allele Identifier: CA2580063245

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2112154
• ClinVar RCV Id: RCV003024184

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750464_75750466dup , CM000663.2:g.75750464_75750466dup	GRCh38
NC_000001.10:g.76216149_76216151dup , CM000663.1:g.76216149_76216151dup	GRCh37
NC_000001.9:g.75988737_75988739dup	NCBI36
NG_007045.2:g.31107_31109dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.863_865dup MANE Select	ENSP00000359878.5:p.Ala288_Val289insAla
ENST00000473018.3:n.2987_2989dup
ENST00000532207.6:n.1752_1754dup
ENST00000541113.6:c.849+905_849+907dup	ENSP00000442324.2:n.849+905_849+907dup
ENST00000679509.1:n.1825_1827dup
ENST00000679530.1:c.*631_*633dup	ENSP00000506454.1:n.*631_*633dup
ENST00000679615.1:n.2878_2880dup
ENST00000679687.1:c.425_427dup	ENSP00000506598.1:p.Ala142_Val143insAla
ENST00000679704.1:c.*629_*631dup	ENSP00000505117.1:n.*629_*631dup
ENST00000679709.1:c.*826_*828dup	ENSP00000506623.1:n.*826_*828dup
ENST00000679976.1:c.*447_*449dup	ENSP00000505565.1:n.*447_*449dup
ENST00000680166.1:n.4152_4154dup
ENST00000680315.1:n.746_748dup
ENST00000680517.1:c.*251_*253dup	ENSP00000505803.1:n.*251_*253dup
ENST00000680582.1:n.1825_1827dup
ENST00000680613.1:c.*234_*236dup	ENSP00000506114.1:n.*234_*236dup
ENST00000680662.1:c.*777_*779dup	ENSP00000505080.1:n.*777_*779dup
ENST00000680691.1:c.*526_*528dup	ENSP00000506487.1:n.*526_*528dup
ENST00000680694.1:c.*451_*453dup	ENSP00000505658.1:n.*451_*453dup
ENST00000680743.1:c.*530_*532dup	ENSP00000505073.1:n.*530_*532dup
ENST00000680749.1:c.*148_*150dup	ENSP00000505122.1:n.*148_*150dup
ENST00000680798.1:c.*338_*340dup	ENSP00000505670.1:n.*338_*340dup
ENST00000680805.1:c.722_724dup	ENSP00000505447.1:p.Ala241_Val242insAla
ENST00000680844.1:c.*647_*649dup	ENSP00000506541.1:n.*647_*649dup
ENST00000680948.1:c.*730_*732dup	ENSP00000505441.1:n.*730_*732dup
ENST00000680964.1:c.863_865dup	ENSP00000505961.1:p.Ala288_Val289insAla
ENST00000681037.1:c.*2347_*2349dup	ENSP00000506025.1:n.*2347_*2349dup
ENST00000681063.1:c.*10_*12dup	ENSP00000506616.1:n.*10_*12dup
ENST00000681209.1:c.*518_*520dup	ENSP00000505877.1:n.*518_*520dup
ENST00000681278.1:n.1220_1222dup
ENST00000681289.1:n.4858_4860dup
ENST00000681361.1:c.*530_*532dup	ENSP00000506679.1:n.*530_*532dup
ENST00000681430.1:c.863_865dup	ENSP00000506301.1:p.Ala288_Val289insAla
ENST00000681446.1:c.*445_*447dup	ENSP00000506244.1:n.*445_*447dup
ENST00000681450.1:c.*534_*536dup	ENSP00000505660.1:n.*534_*536dup
ENST00000681548.1:c.*449_*451dup	ENSP00000505275.1:n.*449_*451dup
ENST00000681616.1:c.*522_*524dup	ENSP00000505111.1:n.*522_*524dup
ENST00000681621.1:c.*447_*449dup	ENSP00000505770.1:n.*447_*449dup
ENST00000681680.1:n.2958_2960dup
ENST00000681720.1:c.*318_*320dup	ENSP00000505438.1:n.*318_*320dup
ENST00000681730.1:n.1085_1087dup
ENST00000681790.1:c.605_607dup	ENSP00000505130.1:p.Ala202_Val203insAla
ENST00000681837.1:n.1479_1481dup
ENST00000681913.1:n.2987_2989dup
ENST00000681916.1:c.*631_*633dup	ENSP00000506477.1:n.*631_*633dup
ENST00000681930.1:n.2987_2989dup
ENST00000370834.9:c.962_964dup	ENSP00000359871.5:p.Ala321_Val322insAla
ENST00000370841.8:c.863_865dup	ENSP00000359878.4:p.Ala288_Val289insAla
ENST00000420607.6:c.875_877dup	ENSP00000409612.2:p.Ala292_Val293insAla
ENST00000481374.1:n.14_16dup
ENST00000525808.5:c.*449_*451dup	ENSP00000434823.1:n.*449_*451dup
ENST00000526129.5:c.*647_*649dup	ENSP00000434092.1:n.*647_*649dup
ENST00000526196.5:c.*631_*633dup	ENSP00000431953.1:n.*631_*633dup
ENST00000528016.1:c.77_79dup	ENSP00000434284.1:p.Ala26_Val27insAla
ENST00000529059.5:n.772_774dup
ENST00000532207.5:n.593_595dup
ENST00000534334.5:c.*447_*449dup	ENSP00000435584.1:n.*447_*449dup
ENST00000541113.5:c.755_757dup	ENSP00000442324.1:p.Ala252_Val253insAla
NM_000016.5:c.863_865dup	NP_000007.1:p.Ala288_Val289insAla
NM_001127328.2:c.875_877dup	NP_001120800.1:p.Ala292_Val293insAla
NM_001286042.1:c.755_757dup	NP_001272971.1:p.Ala252_Val253insAla
NM_001286043.1:c.962_964dup	NP_001272972.1:p.Ala321_Val322insAla
NM_001286044.1:c.296_298dup	NP_001272973.1:p.Ala99_Val100insAla
NM_000016.6:c.863_865dup MANE Select	NP_000007.1:p.Ala288_Val289insAla
NM_001127328.3:c.875_877dup	NP_001120800.1:p.Ala292_Val293insAla
NM_001286042.2:c.755_757dup	NP_001272971.1:p.Ala252_Val253insAla
NM_001286043.2:c.962_964dup	NP_001272972.1:p.Ala321_Val322insAla
NM_001286044.2:c.296_298dup	NP_001272973.1:p.Ala99_Val100insAla