Canonical Allele Identifier: CA10576239
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 226077
ClinVar RCV Id: RCV000211520
dbSNP Id: rs875989864

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75750527dup , CM000663.2:g.75750527dup GRCh38
NC_000001.10:g.76216212dup , CM000663.1:g.76216212dup GRCh37
NC_000001.9:g.75988800dup NCBI36
NG_007045.2:g.31170dup

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.926dup MANE Select ENSP00000359878.5:p.Gly310ArgfsTer16
ENST00000473018.3:n.3050dup
ENST00000532207.6:n.1815dup
ENST00000541113.6:c.849+968dup ENSP00000442324.2:p.=
ENST00000679509.1:n.1888dup
ENST00000679530.1:c.*694dup ENSP00000506454.1:p.=
ENST00000679615.1:n.2941dup
ENST00000679687.1:c.488dup ENSP00000506598.1:p.Gly164ArgfsTer16
ENST00000679704.1:c.*692dup ENSP00000505117.1:p.=
ENST00000679709.1:c.*889dup ENSP00000506623.1:p.=
ENST00000679976.1:c.*510dup ENSP00000505565.1:p.=
ENST00000680166.1:n.4215dup
ENST00000680315.1:n.809dup
ENST00000680517.1:c.*314dup ENSP00000505803.1:p.=
ENST00000680582.1:n.1888dup
ENST00000680613.1:c.*297dup ENSP00000506114.1:p.=
ENST00000680662.1:c.*840dup ENSP00000505080.1:p.=
ENST00000680691.1:c.*589dup ENSP00000506487.1:p.=
ENST00000680694.1:c.*514dup ENSP00000505658.1:p.=
ENST00000680743.1:c.*593dup ENSP00000505073.1:p.=
ENST00000680749.1:c.*211dup ENSP00000505122.1:p.=
ENST00000680798.1:c.*401dup ENSP00000505670.1:p.=
ENST00000680805.1:c.785dup ENSP00000505447.1:p.Gly263ArgfsTer16
ENST00000680844.1:c.*710dup ENSP00000506541.1:p.=
ENST00000680948.1:c.*793dup ENSP00000505441.1:p.=
ENST00000680964.1:c.926dup ENSP00000505961.1:p.Gly310ArgfsTer16
ENST00000681037.1:c.*2410dup ENSP00000506025.1:p.=
ENST00000681063.1:c.*73dup ENSP00000506616.1:p.=
ENST00000681209.1:c.*581dup ENSP00000505877.1:p.=
ENST00000681278.1:n.1283dup
ENST00000681289.1:n.4921dup
ENST00000681361.1:c.*593dup ENSP00000506679.1:p.=
ENST00000681430.1:c.926dup ENSP00000506301.1:p.Gly310ArgfsTer16
ENST00000681446.1:c.*508dup ENSP00000506244.1:p.=
ENST00000681450.1:c.*597dup ENSP00000505660.1:p.=
ENST00000681548.1:c.*512dup ENSP00000505275.1:p.=
ENST00000681616.1:c.*585dup ENSP00000505111.1:p.=
ENST00000681621.1:c.*510dup ENSP00000505770.1:p.=
ENST00000681680.1:n.3021dup
ENST00000681720.1:c.*381dup ENSP00000505438.1:p.=
ENST00000681730.1:n.1148dup
ENST00000681790.1:c.668dup ENSP00000505130.1:p.Gly224ArgfsTer16
ENST00000681837.1:n.1542dup
ENST00000681913.1:n.3050dup
ENST00000681916.1:c.*694dup ENSP00000506477.1:p.=
ENST00000681930.1:n.3050dup
ENST00000370834.9:c.1025dup ENSP00000359871.5:p.Gly343ArgfsTer16
ENST00000370841.8:c.926dup ENSP00000359878.4:p.Gly310ArgfsTer16
ENST00000420607.6:c.938dup ENSP00000409612.2:p.Gly314ArgfsTer16
ENST00000481374.1:n.77dup
ENST00000525808.5:c.*512dup ENSP00000434823.1:p.=
ENST00000526129.5:c.*710dup ENSP00000434092.1:p.=
ENST00000526196.5:c.*694dup ENSP00000431953.1:p.=
ENST00000528016.1:n.140dup ENSP00000434284.1:p.Gly48ArgfsTer?
ENST00000529059.5:n.835dup
ENST00000532207.5:n.656dup
ENST00000534334.5:c.*510dup ENSP00000435584.1:p.=
ENST00000541113.5:c.818dup ENSP00000442324.1:p.Gly274ArgfsTer16
NM_000016.5:c.926dup NP_000007.1:p.Gly310ArgfsTer16
NM_001127328.2:c.938dup NP_001120800.1:p.Gly314ArgfsTer16
NM_001286042.1:c.818dup NP_001272971.1:p.Gly274ArgfsTer16
NM_001286043.1:c.1025dup NP_001272972.1:p.Gly343ArgfsTer16
NM_001286044.1:c.359dup NP_001272973.1:p.Gly121ArgfsTer16
NM_000016.6:c.926dup MANE Select NP_000007.1:p.Gly310ArgfsTer16
NM_001127328.3:c.938dup NP_001120800.1:p.Gly314ArgfsTer16
NM_001286042.2:c.818dup NP_001272971.1:p.Gly274ArgfsTer16
NM_001286043.2:c.1025dup NP_001272972.1:p.Gly343ArgfsTer16
NM_001286044.2:c.359dup NP_001272973.1:p.Gly121ArgfsTer16