Canonical Allele Identifier: CA913133

Gene: ACADM

Linked Data

• ClinVar Variation Id: 555395
• ClinVar RCV Id: RCV000671212
• dbSNP Id: rs776120077
• ExAC: 1:76205732 AAGG / A
• gnomAD v2: 1-76205732-AAGG-A
• gnomAD v3: 1-75740047-AAGG-A
• gnomAD v4: 1-75740047-AAGG-A
• MyVariant Identifiers: chr1:g.76205735_76205737del (hg19) ; chr1:g.76205733_76205735del (hg19) ; chr1:g.75740050_75740052del (hg38) ; chr1:g.75740048_75740050del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740050_75740052del , CM000663.2:g.75740050_75740052del	GRCh38
NC_000001.10:g.76205735_76205737del , CM000663.1:g.76205735_76205737del	GRCh37
NC_000001.9:g.75978323_75978325del	NCBI36
NG_007045.2:g.20693_20695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.539_541del MANE Select	ENSP00000359878.5:p.Gly180del
ENST00000473018.3:n.2663_2665del
ENST00000541113.6:c.539_541del	ENSP00000442324.2:p.Gly180del
ENST00000679509.1:n.1501_1503del
ENST00000679530.1:c.*307_*309del	ENSP00000506454.1:n.*307_*309del
ENST00000679615.1:n.2663_2665del
ENST00000679687.1:c.101_103del	ENSP00000506598.1:p.Gly34del
ENST00000679704.1:c.*305_*307del	ENSP00000505117.1:n.*305_*307del
ENST00000679709.1:c.*502_*504del	ENSP00000506623.1:n.*502_*504del
ENST00000679804.1:n.278_280del
ENST00000679976.1:c.*123_*125del	ENSP00000505565.1:n.*123_*125del
ENST00000680166.1:n.3828_3830del
ENST00000680517.1:c.*36_*38del	ENSP00000505803.1:n.*36_*38del
ENST00000680582.1:n.1501_1503del
ENST00000680613.1:c.539_541del	ENSP00000506114.1:p.Gly180del
ENST00000680662.1:c.*453_*455del	ENSP00000505080.1:n.*453_*455del
ENST00000680691.1:c.*202_*204del	ENSP00000506487.1:n.*202_*204del
ENST00000680694.1:c.*127_*129del	ENSP00000505658.1:n.*127_*129del
ENST00000680743.1:c.*206_*208del	ENSP00000505073.1:n.*206_*208del
ENST00000680749.1:c.539_541del	ENSP00000505122.1:p.Gly180del
ENST00000680798.1:c.*123_*125del	ENSP00000505670.1:n.*123_*125del
ENST00000680805.1:c.539_541del	ENSP00000505447.1:p.Gly180del
ENST00000680844.1:c.*323_*325del	ENSP00000506541.1:n.*323_*325del
ENST00000680948.1:c.*406_*408del	ENSP00000505441.1:n.*406_*408del
ENST00000680964.1:c.539_541del	ENSP00000505961.1:p.Gly180del
ENST00000681037.1:c.539_541del	ENSP00000506025.1:p.Gly180del
ENST00000681063.1:c.539_541del	ENSP00000506616.1:p.Gly180del
ENST00000681209.1:c.*303_*305del	ENSP00000505877.1:n.*303_*305del
ENST00000681278.1:n.896_898del
ENST00000681289.1:n.896_898del
ENST00000681361.1:c.*206_*208del	ENSP00000506679.1:n.*206_*208del
ENST00000681430.1:c.539_541del	ENSP00000506301.1:p.Gly180del
ENST00000681446.1:c.*121_*123del	ENSP00000506244.1:n.*121_*123del
ENST00000681450.1:c.*210_*212del	ENSP00000505660.1:n.*210_*212del
ENST00000681548.1:c.*125_*127del	ENSP00000505275.1:n.*125_*127del
ENST00000681616.1:c.*307_*309del	ENSP00000505111.1:n.*307_*309del
ENST00000681621.1:c.*123_*125del	ENSP00000505770.1:n.*123_*125del
ENST00000681680.1:n.2663_2665del
ENST00000681720.1:c.*55-5756_*55-5754del	ENSP00000505438.1:n.*55-5756_*55-5754del
ENST00000681730.1:n.761_763del
ENST00000681790.1:c.281_283del	ENSP00000505130.1:p.Gly94del
ENST00000681837.1:n.1155_1157del
ENST00000681913.1:n.2663_2665del
ENST00000681916.1:c.*307_*309del	ENSP00000506477.1:n.*307_*309del
ENST00000681930.1:n.2663_2665del
ENST00000370834.9:c.638_640del	ENSP00000359871.5:p.Gly213del
ENST00000370841.8:c.539_541del	ENSP00000359878.4:p.Gly180del
ENST00000420607.6:c.551_553del	ENSP00000409612.2:p.Gly184del
ENST00000525808.5:c.*125_*127del	ENSP00000434823.1:n.*125_*127del
ENST00000526129.5:c.*323_*325del	ENSP00000434092.1:n.*323_*325del
ENST00000526196.5:c.*307_*309del	ENSP00000431953.1:n.*307_*309del
ENST00000526930.1:n.312_314del
ENST00000529059.5:n.448_450del
ENST00000530953.6:c.*36_*38del	ENSP00000431372.1:n.*36_*38del
ENST00000532509.5:c.*303_*305del	ENSP00000432522.1:n.*303_*305del
ENST00000534334.5:c.*123_*125del	ENSP00000435584.1:n.*123_*125del
ENST00000541113.5:c.431_433del	ENSP00000442324.1:p.Gly144del
NM_000016.5:c.539_541del	NP_000007.1:p.Gly180del
NM_001127328.2:c.551_553del	NP_001120800.1:p.Gly184del
NM_001286042.1:c.431_433del	NP_001272971.1:p.Gly144del
NM_001286043.1:c.638_640del	NP_001272972.1:p.Gly213del
NM_001286044.1:c.-29_-27del	NP_001272973.1:n.-29_-27del
NM_000016.6:c.539_541del MANE Select	NP_000007.1:p.Gly180del
NM_001127328.3:c.551_553del	NP_001120800.1:p.Gly184del
NM_001286042.2:c.431_433del	NP_001272971.1:p.Gly144del
NM_001286043.2:c.638_640del	NP_001272972.1:p.Gly213del
NM_001286044.2:c.-29_-27del	NP_001272973.1:n.-29_-27del