Canonical Allele Identifier: CA2573132611

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1420985
• ClinVar RCV Id: RCV001943690
• dbSNP Id: rs2100453109

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761218del , CM000663.2:g.75761218del	GRCh38
NC_000001.10:g.76226903del , CM000663.1:g.76226903del	GRCh37
NC_000001.9:g.75999491del	NCBI36
NG_007045.2:g.41861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.1042del MANE Select	ENSP00000359878.5:p.Arg348ValfsTer21
ENST00000473018.3:n.3166del
ENST00000532207.6:n.2053del
ENST00000541113.6:c.946del	ENSP00000442324.2:p.Arg316ValfsTer21
ENST00000679509.1:n.2004del
ENST00000679530.1:c.*810del	ENSP00000506454.1:n.*810del
ENST00000679615.1:n.3057del
ENST00000679687.1:c.604del	ENSP00000506598.1:p.Arg202ValfsTer21
ENST00000679704.1:c.*808del	ENSP00000505117.1:n.*808del
ENST00000679709.1:c.*1005del	ENSP00000506623.1:n.*1005del
ENST00000679976.1:c.*626del	ENSP00000505565.1:n.*626del
ENST00000680166.1:n.4331del
ENST00000680315.1:n.925del
ENST00000680517.1:c.*430del	ENSP00000505803.1:n.*430del
ENST00000680582.1:n.2004del
ENST00000680613.1:c.*535del	ENSP00000506114.1:n.*535del
ENST00000680662.1:c.*956del	ENSP00000505080.1:n.*956del
ENST00000680691.1:c.*705del	ENSP00000506487.1:n.*705del
ENST00000680694.1:c.*630del	ENSP00000505658.1:n.*630del
ENST00000680743.1:c.*831del	ENSP00000505073.1:n.*831del
ENST00000680749.1:c.*327del	ENSP00000505122.1:n.*327del
ENST00000680798.1:c.*517del	ENSP00000505670.1:n.*517del
ENST00000680805.1:c.901del	ENSP00000505447.1:p.Arg301ValfsTer21
ENST00000680844.1:c.*826del	ENSP00000506541.1:n.*826del
ENST00000680948.1:c.*909del	ENSP00000505441.1:n.*909del
ENST00000680964.1:c.*135del	ENSP00000505961.1:n.*135del
ENST00000681037.1:c.*2526del	ENSP00000506025.1:n.*2526del
ENST00000681063.1:c.*311del	ENSP00000506616.1:n.*311del
ENST00000681209.1:c.*697del	ENSP00000505877.1:n.*697del
ENST00000681278.1:n.1744del
ENST00000681289.1:n.5037del
ENST00000681361.1:c.*709del	ENSP00000506679.1:n.*709del
ENST00000681430.1:c.*135del	ENSP00000506301.1:n.*135del
ENST00000681446.1:c.*746del	ENSP00000506244.1:n.*746del
ENST00000681450.1:c.*713del	ENSP00000505660.1:n.*713del
ENST00000681548.1:c.*628del	ENSP00000505275.1:n.*628del
ENST00000681616.1:c.*701del	ENSP00000505111.1:n.*701del
ENST00000681621.1:c.*626del	ENSP00000505770.1:n.*626del
ENST00000681680.1:n.3137del
ENST00000681720.1:c.*497del	ENSP00000505438.1:n.*497del
ENST00000681730.1:n.1264del
ENST00000681790.1:c.784del	ENSP00000505130.1:p.Arg262ValfsTer21
ENST00000681837.1:n.1658del
ENST00000681913.1:n.3288del
ENST00000681916.1:c.*810del	ENSP00000506477.1:n.*810del
ENST00000681930.1:n.3166del
ENST00000370834.9:c.1141del	ENSP00000359871.5:p.Arg381ValfsTer21
ENST00000370841.8:c.1042del	ENSP00000359878.4:p.Arg348ValfsTer21
ENST00000420607.6:c.1054del	ENSP00000409612.2:p.Arg352ValfsTer21
ENST00000481374.1:n.315del
ENST00000525808.5:c.*628del	ENSP00000434823.1:n.*628del
ENST00000526129.5:c.*826del	ENSP00000434092.1:n.*826del
ENST00000526196.5:c.*810del	ENSP00000431953.1:n.*810del
ENST00000528016.1:c.160-7959del	ENSP00000434284.1:n.160-7959del
ENST00000529059.5:n.951del
ENST00000534334.5:c.*783del	ENSP00000435584.1:n.*783del
ENST00000541113.5:c.934del	ENSP00000442324.1:p.Arg312ValfsTer21
NM_000016.5:c.1042del	NP_000007.1:p.Arg348ValfsTer21
NM_001127328.2:c.1054del	NP_001120800.1:p.Arg352ValfsTer21
NM_001286042.1:c.934del	NP_001272971.1:p.Arg312ValfsTer21
NM_001286043.1:c.1141del	NP_001272972.1:p.Arg381ValfsTer21
NM_001286044.1:c.475del	NP_001272973.1:p.Arg159ValfsTer21
NM_000016.6:c.1042del MANE Select	NP_000007.1:p.Arg348ValfsTer21
NM_001127328.3:c.1054del	NP_001120800.1:p.Arg352ValfsTer21
NM_001286042.2:c.934del	NP_001272971.1:p.Arg312ValfsTer21
NM_001286043.2:c.1141del	NP_001272972.1:p.Arg381ValfsTer21
NM_001286044.2:c.475del	NP_001272973.1:p.Arg159ValfsTer21