Canonical Allele Identifier: CA2580063237

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2117181
• ClinVar RCV Id: RCV003027611
• gnomAD v4: 1-75762722-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75762723_75762724del , CM000663.2:g.75762723_75762724del	GRCh38
NC_000001.10:g.76228408_76228409del , CM000663.1:g.76228408_76228409del	GRCh37
NC_000001.9:g.76000996_76000997del	NCBI36
NG_007045.2:g.43366_43367del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.1226_1227del MANE Select	ENSP00000359878.5:p.Leu409HisfsTer5
ENST00000473018.3:n.3350_3351del
ENST00000532207.6:n.3558_3559del
ENST00000541113.6:c.1130_1131del	ENSP00000442324.2:p.Leu377HisfsTer5
ENST00000679509.1:n.3509_3510del
ENST00000679530.1:c.*994_*995del	ENSP00000506454.1:n.*994_*995del
ENST00000679615.1:n.4562_4563del
ENST00000679687.1:c.788_789del	ENSP00000506598.1:p.Leu263HisfsTer5
ENST00000679704.1:c.*992_*993del	ENSP00000505117.1:n.*992_*993del
ENST00000679709.1:c.*1189_*1190del	ENSP00000506623.1:n.*1189_*1190del
ENST00000679976.1:c.*810_*811del	ENSP00000505565.1:n.*810_*811del
ENST00000680166.1:n.4515_4516del
ENST00000680582.1:n.2188_2189del
ENST00000680613.1:c.*719_*720del	ENSP00000506114.1:n.*719_*720del
ENST00000680662.1:c.*1140_*1141del	ENSP00000505080.1:n.*1140_*1141del
ENST00000680691.1:c.*889_*890del	ENSP00000506487.1:n.*889_*890del
ENST00000680694.1:c.*814_*815del	ENSP00000505658.1:n.*814_*815del
ENST00000680743.1:c.*1015_*1016del	ENSP00000505073.1:n.*1015_*1016del
ENST00000680749.1:c.*511_*512del	ENSP00000505122.1:n.*511_*512del
ENST00000680798.1:c.*2022_*2023del	ENSP00000505670.1:n.*2022_*2023del
ENST00000680805.1:c.1085_1086del	ENSP00000505447.1:p.Leu362HisfsTer5
ENST00000680844.1:c.*2331_*2332del	ENSP00000506541.1:n.*2331_*2332del
ENST00000680948.1:c.*1093_*1094del	ENSP00000505441.1:n.*1093_*1094del
ENST00000680964.1:c.*1640_*1641del	ENSP00000505961.1:n.*1640_*1641del
ENST00000681037.1:c.*2710_*2711del	ENSP00000506025.1:n.*2710_*2711del
ENST00000681063.1:c.*495_*496del	ENSP00000506616.1:n.*495_*496del
ENST00000681209.1:c.*881_*882del	ENSP00000505877.1:n.*881_*882del
ENST00000681278.1:n.1928_1929del
ENST00000681289.1:n.5221_5222del
ENST00000681361.1:c.*2214_*2215del	ENSP00000506679.1:n.*2214_*2215del
ENST00000681430.1:c.*319_*320del	ENSP00000506301.1:n.*319_*320del
ENST00000681446.1:c.*2251_*2252del	ENSP00000506244.1:n.*2251_*2252del
ENST00000681450.1:c.*897_*898del	ENSP00000505660.1:n.*897_*898del
ENST00000681548.1:c.*2133_*2134del	ENSP00000505275.1:n.*2133_*2134del
ENST00000681616.1:c.*2206_*2207del	ENSP00000505111.1:n.*2206_*2207del
ENST00000681621.1:c.*2131_*2132del	ENSP00000505770.1:n.*2131_*2132del
ENST00000681680.1:n.4642_4643del
ENST00000681720.1:c.*681_*682del	ENSP00000505438.1:n.*681_*682del
ENST00000681730.1:n.1448_1449del
ENST00000681790.1:c.968_969del	ENSP00000505130.1:p.Leu323HisfsTer5
ENST00000681837.1:n.3163_3164del
ENST00000681913.1:n.3472_3473del
ENST00000681916.1:c.*994_*995del	ENSP00000506477.1:n.*994_*995del
ENST00000681930.1:n.4671_4672del
ENST00000370834.9:c.1325_1326del	ENSP00000359871.5:p.Leu442HisfsTer5
ENST00000370841.8:c.1226_1227del	ENSP00000359878.4:p.Leu409HisfsTer5
ENST00000420607.6:c.1238_1239del	ENSP00000409612.2:p.Leu413HisfsTer5
ENST00000481374.1:n.468-570_468-569del
ENST00000525808.5:c.*812_*813del	ENSP00000434823.1:n.*812_*813del
ENST00000526196.5:c.*994_*995del	ENSP00000431953.1:n.*994_*995del
ENST00000528016.1:c.160-6454_160-6453del	ENSP00000434284.1:n.160-6454_160-6453del
ENST00000529059.5:n.1135_1136del
ENST00000541113.5:c.1118_1119del	ENSP00000442324.1:p.Leu373HisfsTer5
NM_000016.5:c.1226_1227del	NP_000007.1:p.Leu409HisfsTer5
NM_001127328.2:c.1238_1239del	NP_001120800.1:p.Leu413HisfsTer5
NM_001286042.1:c.1118_1119del	NP_001272971.1:p.Leu373HisfsTer5
NM_001286043.1:c.1325_1326del	NP_001272972.1:p.Leu442HisfsTer5
NM_001286044.1:c.659_660del	NP_001272973.1:p.Leu220HisfsTer5
NM_000016.6:c.1226_1227del MANE Select	NP_000007.1:p.Leu409HisfsTer5
NM_001127328.3:c.1238_1239del	NP_001120800.1:p.Leu413HisfsTer5
NM_001286042.2:c.1118_1119del	NP_001272971.1:p.Leu373HisfsTer5
NM_001286043.2:c.1325_1326del	NP_001272972.1:p.Leu442HisfsTer5
NM_001286044.2:c.659_660del	NP_001272973.1:p.Leu220HisfsTer5