Canonical Allele Identifier: CA658656942

Gene: ACADM

Linked Data

• ClinVar Variation Id: 458791
• ClinVar RCV Id: RCV000548185
• dbSNP Id: rs1553127172
• MyVariant Identifiers: chr1:g.76226850_76226871del (hg19) ; chr1:g.75761165_75761186del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75761165_75761186del , CM000663.2:g.75761165_75761186del	GRCh38
NC_000001.10:g.76226850_76226871del , CM000663.1:g.76226850_76226871del	GRCh37
NC_000001.9:g.75999438_75999459del	NCBI36
NG_007045.2:g.41808_41829del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.989_1010del MANE Select	ENSP00000359878.5:p.Val330AlafsTer?
ENST00000473018.3:n.3113_3134del
ENST00000532207.6:n.2000_2021del
ENST00000541113.6:c.893_914del	ENSP00000442324.2:p.Val298AlafsTer?
ENST00000679509.1:n.1951_1972del
ENST00000679530.1:c.*757_*778del	ENSP00000506454.1:n.*757_*778del
ENST00000679615.1:n.3004_3025del
ENST00000679687.1:c.551_572del	ENSP00000506598.1:p.Val184AlafsTer?
ENST00000679704.1:c.*755_*776del	ENSP00000505117.1:n.*755_*776del
ENST00000679709.1:c.*952_*973del	ENSP00000506623.1:n.*952_*973del
ENST00000679976.1:c.*573_*594del	ENSP00000505565.1:n.*573_*594del
ENST00000680166.1:n.4278_4299del
ENST00000680315.1:n.872_893del
ENST00000680517.1:c.*377_*398del	ENSP00000505803.1:n.*377_*398del
ENST00000680582.1:n.1951_1972del
ENST00000680613.1:c.*482_*503del	ENSP00000506114.1:n.*482_*503del
ENST00000680662.1:c.*903_*924del	ENSP00000505080.1:n.*903_*924del
ENST00000680691.1:c.*652_*673del	ENSP00000506487.1:n.*652_*673del
ENST00000680694.1:c.*577_*598del	ENSP00000505658.1:n.*577_*598del
ENST00000680743.1:c.*778_*799del	ENSP00000505073.1:n.*778_*799del
ENST00000680749.1:c.*274_*295del	ENSP00000505122.1:n.*274_*295del
ENST00000680798.1:c.*464_*485del	ENSP00000505670.1:n.*464_*485del
ENST00000680805.1:c.848_869del	ENSP00000505447.1:p.Val283AlafsTer?
ENST00000680844.1:c.*773_*794del	ENSP00000506541.1:n.*773_*794del
ENST00000680948.1:c.*856_*877del	ENSP00000505441.1:n.*856_*877del
ENST00000680964.1:c.*82_*103del	ENSP00000505961.1:n.*82_*103del
ENST00000681037.1:c.*2473_*2494del	ENSP00000506025.1:n.*2473_*2494del
ENST00000681063.1:c.*258_*279del	ENSP00000506616.1:n.*258_*279del
ENST00000681209.1:c.*644_*665del	ENSP00000505877.1:n.*644_*665del
ENST00000681278.1:n.1691_1712del
ENST00000681289.1:n.4984_5005del
ENST00000681361.1:c.*656_*677del	ENSP00000506679.1:n.*656_*677del
ENST00000681430.1:c.*82_*103del	ENSP00000506301.1:n.*82_*103del
ENST00000681446.1:c.*693_*714del	ENSP00000506244.1:n.*693_*714del
ENST00000681450.1:c.*660_*681del	ENSP00000505660.1:n.*660_*681del
ENST00000681548.1:c.*575_*596del	ENSP00000505275.1:n.*575_*596del
ENST00000681616.1:c.*648_*669del	ENSP00000505111.1:n.*648_*669del
ENST00000681621.1:c.*573_*594del	ENSP00000505770.1:n.*573_*594del
ENST00000681680.1:n.3084_3105del
ENST00000681720.1:c.*444_*465del	ENSP00000505438.1:n.*444_*465del
ENST00000681730.1:n.1211_1232del
ENST00000681790.1:c.731_752del	ENSP00000505130.1:p.Val244AlafsTer?
ENST00000681837.1:n.1605_1626del
ENST00000681913.1:n.3235_3256del
ENST00000681916.1:c.*757_*778del	ENSP00000506477.1:n.*757_*778del
ENST00000681930.1:n.3113_3134del
ENST00000370834.9:c.1088_1109del	ENSP00000359871.5:p.Val363AlafsTer?
ENST00000370841.8:c.989_1010del	ENSP00000359878.4:p.Val330AlafsTer?
ENST00000420607.6:c.1001_1022del	ENSP00000409612.2:p.Val334AlafsTer?
ENST00000481374.1:n.262_283del
ENST00000525808.5:c.*575_*596del	ENSP00000434823.1:n.*575_*596del
ENST00000526129.5:c.*773_*794del	ENSP00000434092.1:n.*773_*794del
ENST00000526196.5:c.*757_*778del	ENSP00000431953.1:n.*757_*778del
ENST00000528016.1:c.160-8012_160-7991del	ENSP00000434284.1:n.160-8012_160-7991del
ENST00000529059.5:n.898_919del
ENST00000532207.5:n.719_740del
ENST00000534334.5:c.*730_*751del	ENSP00000435584.1:n.*730_*751del
ENST00000541113.5:c.881_902del	ENSP00000442324.1:p.Val294AlafsTer?
NM_000016.5:c.989_1010del	NP_000007.1:p.Val330AlafsTer?
NM_001127328.2:c.1001_1022del	NP_001120800.1:p.Val334AlafsTer?
NM_001286042.1:c.881_902del	NP_001272971.1:p.Val294AlafsTer?
NM_001286043.1:c.1088_1109del	NP_001272972.1:p.Val363AlafsTer?
NM_001286044.1:c.422_443del	NP_001272973.1:p.Val141AlafsTer?
NM_000016.6:c.989_1010del MANE Select	NP_000007.1:p.Val330AlafsTer?
NM_001127328.3:c.1001_1022del	NP_001120800.1:p.Val334AlafsTer?
NM_001286042.2:c.881_902del	NP_001272971.1:p.Val294AlafsTer?
NM_001286043.2:c.1088_1109del	NP_001272972.1:p.Val363AlafsTer?
NM_001286044.2:c.422_443del	NP_001272973.1:p.Val141AlafsTer?