Canonical Allele Identifier: CA2580063234

Gene: ACADM

Linked Data

• ClinVar Variation Id: 2114054
• ClinVar RCV Id: RCV003042595

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761365_75761368del , CM000663.2:g.75761365_75761368del	GRCh38
NC_000001.10:g.76227050_76227053del , CM000663.1:g.76227050_76227053del	GRCh37
NC_000001.9:g.75999638_75999641del	NCBI36
NG_007045.2:g.42008_42011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1189_1192del MANE Select	ENSP00000359878.5:p.Tyr397ArgfsTer14
ENST00000473018.3:n.3313_3316del
ENST00000532207.6:n.2200_2203del
ENST00000541113.6:c.1093_1096del	ENSP00000442324.2:p.Tyr365ArgfsTer14
ENST00000679509.1:n.2151_2154del
ENST00000679530.1:c.*957_*960del	ENSP00000506454.1:n.*957_*960del
ENST00000679615.1:n.3204_3207del
ENST00000679687.1:c.751_754del	ENSP00000506598.1:p.Tyr251ArgfsTer14
ENST00000679704.1:c.*955_*958del	ENSP00000505117.1:n.*955_*958del
ENST00000679709.1:c.*1152_*1155del	ENSP00000506623.1:n.*1152_*1155del
ENST00000679976.1:c.*773_*776del	ENSP00000505565.1:n.*773_*776del
ENST00000680166.1:n.4478_4481del
ENST00000680315.1:n.1072_1075del
ENST00000680517.1:c.*577_*580del	ENSP00000505803.1:n.*577_*580del
ENST00000680582.1:n.2151_2154del
ENST00000680613.1:c.*682_*685del	ENSP00000506114.1:n.*682_*685del
ENST00000680662.1:c.*1103_*1106del	ENSP00000505080.1:n.*1103_*1106del
ENST00000680691.1:c.*852_*855del	ENSP00000506487.1:n.*852_*855del
ENST00000680694.1:c.*777_*780del	ENSP00000505658.1:n.*777_*780del
ENST00000680743.1:c.*978_*981del	ENSP00000505073.1:n.*978_*981del
ENST00000680749.1:c.*474_*477del	ENSP00000505122.1:n.*474_*477del
ENST00000680798.1:c.*664_*667del	ENSP00000505670.1:n.*664_*667del
ENST00000680805.1:c.1048_1051del	ENSP00000505447.1:p.Tyr350ArgfsTer14
ENST00000680844.1:c.*973_*976del	ENSP00000506541.1:n.*973_*976del
ENST00000680948.1:c.*1056_*1059del	ENSP00000505441.1:n.*1056_*1059del
ENST00000680964.1:c.*282_*285del	ENSP00000505961.1:n.*282_*285del
ENST00000681037.1:c.*2673_*2676del	ENSP00000506025.1:n.*2673_*2676del
ENST00000681063.1:c.*458_*461del	ENSP00000506616.1:n.*458_*461del
ENST00000681209.1:c.*844_*847del	ENSP00000505877.1:n.*844_*847del
ENST00000681278.1:n.1891_1894del
ENST00000681289.1:n.5184_5187del
ENST00000681361.1:c.*856_*859del	ENSP00000506679.1:n.*856_*859del
ENST00000681430.1:c.*282_*285del	ENSP00000506301.1:n.*282_*285del
ENST00000681446.1:c.*893_*896del	ENSP00000506244.1:n.*893_*896del
ENST00000681450.1:c.*860_*863del	ENSP00000505660.1:n.*860_*863del
ENST00000681548.1:c.*775_*778del	ENSP00000505275.1:n.*775_*778del
ENST00000681616.1:c.*848_*851del	ENSP00000505111.1:n.*848_*851del
ENST00000681621.1:c.*773_*776del	ENSP00000505770.1:n.*773_*776del
ENST00000681680.1:n.3284_3287del
ENST00000681720.1:c.*644_*647del	ENSP00000505438.1:n.*644_*647del
ENST00000681730.1:n.1411_1414del
ENST00000681790.1:c.931_934del	ENSP00000505130.1:p.Tyr311ArgfsTer14
ENST00000681837.1:n.1805_1808del
ENST00000681913.1:n.3435_3438del
ENST00000681916.1:c.*957_*960del	ENSP00000506477.1:n.*957_*960del
ENST00000681930.1:n.3313_3316del
ENST00000370834.9:c.1288_1291del	ENSP00000359871.5:p.Tyr430ArgfsTer14
ENST00000370841.8:c.1189_1192del	ENSP00000359878.4:p.Tyr397ArgfsTer14
ENST00000420607.6:c.1201_1204del	ENSP00000409612.2:p.Tyr401ArgfsTer14
ENST00000481374.1:n.462_465del
ENST00000525808.5:c.*775_*778del	ENSP00000434823.1:n.*775_*778del
ENST00000526129.5:c.*973_*976del	ENSP00000434092.1:n.*973_*976del
ENST00000526196.5:c.*957_*960del	ENSP00000431953.1:n.*957_*960del
ENST00000528016.1:c.160-7812_160-7809del	ENSP00000434284.1:n.160-7812_160-7809del
ENST00000529059.5:n.1098_1101del
ENST00000541113.5:c.1081_1084del	ENSP00000442324.1:p.Tyr361ArgfsTer14
NM_000016.5:c.1189_1192del	NP_000007.1:p.Tyr397ArgfsTer14
NM_001127328.2:c.1201_1204del	NP_001120800.1:p.Tyr401ArgfsTer14
NM_001286042.1:c.1081_1084del	NP_001272971.1:p.Tyr361ArgfsTer14
NM_001286043.1:c.1288_1291del	NP_001272972.1:p.Tyr430ArgfsTer14
NM_001286044.1:c.622_625del	NP_001272973.1:p.Tyr208ArgfsTer14
NM_000016.6:c.1189_1192del MANE Select	NP_000007.1:p.Tyr397ArgfsTer14
NM_001127328.3:c.1201_1204del	NP_001120800.1:p.Tyr401ArgfsTer14
NM_001286042.2:c.1081_1084del	NP_001272971.1:p.Tyr361ArgfsTer14
NM_001286043.2:c.1288_1291del	NP_001272972.1:p.Tyr430ArgfsTer14
NM_001286044.2:c.622_625del	NP_001272973.1:p.Tyr208ArgfsTer14