Canonical Allele Identifier: CA252823

Gene: ACADM

Linked Data

• ClinVar Variation Id: 3587
• ClinVar RCV Id: RCV000003770 ; RCV000478348
• dbSNP Id: rs1225471006
• ExAC: 1:76226858 G / GCTAGAATGAGTTA
• gnomAD v2: 1-76226858-G-GCTAGAATGAGTTA
• gnomAD v3: 1-75761173-G-GCTAGAATGAGTTA
• gnomAD v4: 1-75761173-G-GCTAGAATGAGTTA
• MyVariant Identifiers: chr1:g.76226860_76226872dupTAGAATGAGTTAC (hg19) ; chr1:g.76226858_76226859insCTAGAATGAGTTA (hg19) ; chr1:g.75761175_75761187dupTAGAATGAGTTAC (hg38) ; chr1:g.75761173_75761174insCTAGAATGAGTTA (hg38)
• PubMed: PMID:1684086 ; PMID:2394825 ; PMID:6434827

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761175_75761187dup , CM000663.2:g.75761175_75761187dup	GRCh38
NC_000001.10:g.76226860_76226872dup , CM000663.1:g.76226860_76226872dup	GRCh37
NC_000001.9:g.75999448_75999460dup	NCBI36
NG_007045.2:g.41818_41830dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.999_1011dup MANE Select	ENSP00000359878.5:p.Gln338Ter
ENST00000473018.3:n.3123_3135dup
ENST00000532207.6:n.2010_2022dup
ENST00000541113.6:c.903_915dup	ENSP00000442324.2:p.Gln306Ter
ENST00000679509.1:n.1961_1973dup
ENST00000679530.1:c.*767_*779dup	ENSP00000506454.1:n.*767_*779dup
ENST00000679615.1:n.3014_3026dup
ENST00000679687.1:c.561_573dup	ENSP00000506598.1:p.Gln192Ter
ENST00000679704.1:c.*765_*777dup	ENSP00000505117.1:n.*765_*777dup
ENST00000679709.1:c.*962_*974dup	ENSP00000506623.1:n.*962_*974dup
ENST00000679976.1:c.*583_*595dup	ENSP00000505565.1:n.*583_*595dup
ENST00000680166.1:n.4288_4300dup
ENST00000680315.1:n.882_894dup
ENST00000680517.1:c.*387_*399dup	ENSP00000505803.1:n.*387_*399dup
ENST00000680582.1:n.1961_1973dup
ENST00000680613.1:c.*492_*504dup	ENSP00000506114.1:n.*492_*504dup
ENST00000680662.1:c.*913_*925dup	ENSP00000505080.1:n.*913_*925dup
ENST00000680691.1:c.*662_*674dup	ENSP00000506487.1:n.*662_*674dup
ENST00000680694.1:c.*587_*599dup	ENSP00000505658.1:n.*587_*599dup
ENST00000680743.1:c.*788_*800dup	ENSP00000505073.1:n.*788_*800dup
ENST00000680749.1:c.*284_*296dup	ENSP00000505122.1:n.*284_*296dup
ENST00000680798.1:c.*474_*486dup	ENSP00000505670.1:n.*474_*486dup
ENST00000680805.1:c.858_870dup	ENSP00000505447.1:p.Gln291Ter
ENST00000680844.1:c.*783_*795dup	ENSP00000506541.1:n.*783_*795dup
ENST00000680948.1:c.*866_*878dup	ENSP00000505441.1:n.*866_*878dup
ENST00000680964.1:c.*92_*104dup	ENSP00000505961.1:n.*92_*104dup
ENST00000681037.1:c.*2483_*2495dup	ENSP00000506025.1:n.*2483_*2495dup
ENST00000681063.1:c.*268_*280dup	ENSP00000506616.1:n.*268_*280dup
ENST00000681209.1:c.*654_*666dup	ENSP00000505877.1:n.*654_*666dup
ENST00000681278.1:n.1701_1713dup
ENST00000681289.1:n.4994_5006dup
ENST00000681361.1:c.*666_*678dup	ENSP00000506679.1:n.*666_*678dup
ENST00000681430.1:c.*92_*104dup	ENSP00000506301.1:n.*92_*104dup
ENST00000681446.1:c.*703_*715dup	ENSP00000506244.1:n.*703_*715dup
ENST00000681450.1:c.*670_*682dup	ENSP00000505660.1:n.*670_*682dup
ENST00000681548.1:c.*585_*597dup	ENSP00000505275.1:n.*585_*597dup
ENST00000681616.1:c.*658_*670dup	ENSP00000505111.1:n.*658_*670dup
ENST00000681621.1:c.*583_*595dup	ENSP00000505770.1:n.*583_*595dup
ENST00000681680.1:n.3094_3106dup
ENST00000681720.1:c.*454_*466dup	ENSP00000505438.1:n.*454_*466dup
ENST00000681730.1:n.1221_1233dup
ENST00000681790.1:c.741_753dup	ENSP00000505130.1:p.Gln252Ter
ENST00000681837.1:n.1615_1627dup
ENST00000681913.1:n.3245_3257dup
ENST00000681916.1:c.*767_*779dup	ENSP00000506477.1:n.*767_*779dup
ENST00000681930.1:n.3123_3135dup
ENST00000370834.9:c.1098_1110dup	ENSP00000359871.5:p.Gln371Ter
ENST00000370841.8:c.999_1011dup	ENSP00000359878.4:p.Gln338Ter
ENST00000420607.6:c.1011_1023dup	ENSP00000409612.2:p.Gln342Ter
ENST00000481374.1:n.272_284dup
ENST00000525808.5:c.*585_*597dup	ENSP00000434823.1:n.*585_*597dup
ENST00000526129.5:c.*783_*795dup	ENSP00000434092.1:n.*783_*795dup
ENST00000526196.5:c.*767_*779dup	ENSP00000431953.1:n.*767_*779dup
ENST00000528016.1:c.160-8002_160-7990dup	ENSP00000434284.1:n.160-8002_160-7990dup
ENST00000529059.5:n.908_920dup
ENST00000532207.5:n.729_741dup
ENST00000534334.5:c.*740_*752dup	ENSP00000435584.1:n.*740_*752dup
ENST00000541113.5:c.891_903dup	ENSP00000442324.1:p.Gln302Ter
NM_000016.5:c.999_1011dup	NP_000007.1:p.Gln338Ter
NM_001127328.2:c.1011_1023dup	NP_001120800.1:p.Gln342Ter
NM_001286042.1:c.891_903dup	NP_001272971.1:p.Gln302Ter
NM_001286043.1:c.1098_1110dup	NP_001272972.1:p.Gln371Ter
NM_001286044.1:c.432_444dup	NP_001272973.1:p.Gln149Ter
NM_000016.6:c.999_1011dup MANE Select	NP_000007.1:p.Gln338Ter
NM_001127328.3:c.1011_1023dup	NP_001120800.1:p.Gln342Ter
NM_001286042.2:c.891_903dup	NP_001272971.1:p.Gln302Ter
NM_001286043.2:c.1098_1110dup	NP_001272972.1:p.Gln371Ter
NM_001286044.2:c.432_444dup	NP_001272973.1:p.Gln149Ter