Canonical Allele Identifier: CA24632016

Gene: ACADM

Linked Data

• dbSNP Id: rs1031131115
• gnomAD v3: 1-75750468-TGGATTA-T
• gnomAD v4: 1-75750468-TGGATTA-T
• MyVariant Identifiers: chr1:g.76216154_76216159del (hg19) ; chr1:g.75750469_75750474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750470_75750475del , CM000663.2:g.75750470_75750475del	GRCh38
NC_000001.10:g.76216155_76216160del , CM000663.1:g.76216155_76216160del	GRCh37
NC_000001.9:g.75988743_75988748del	NCBI36
NG_007045.2:g.31113_31118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.869_874del MANE Select	ENSP00000359878.5:p.Gly290_Leu291del
ENST00000473018.3:n.2993_2998del
ENST00000532207.6:n.1758_1763del
ENST00000541113.6:c.849+911_849+916del	ENSP00000442324.2:n.849+911_849+916del
ENST00000679509.1:n.1831_1836del
ENST00000679530.1:c.*637_*642del	ENSP00000506454.1:n.*637_*642del
ENST00000679615.1:n.2884_2889del
ENST00000679687.1:c.431_436del	ENSP00000506598.1:p.Gly144_Leu145del
ENST00000679704.1:c.*635_*640del	ENSP00000505117.1:n.*635_*640del
ENST00000679709.1:c.*832_*837del	ENSP00000506623.1:n.*832_*837del
ENST00000679976.1:c.*453_*458del	ENSP00000505565.1:n.*453_*458del
ENST00000680166.1:n.4158_4163del
ENST00000680315.1:n.752_757del
ENST00000680517.1:c.*257_*262del	ENSP00000505803.1:n.*257_*262del
ENST00000680582.1:n.1831_1836del
ENST00000680613.1:c.*240_*245del	ENSP00000506114.1:n.*240_*245del
ENST00000680662.1:c.*783_*788del	ENSP00000505080.1:n.*783_*788del
ENST00000680691.1:c.*532_*537del	ENSP00000506487.1:n.*532_*537del
ENST00000680694.1:c.*457_*462del	ENSP00000505658.1:n.*457_*462del
ENST00000680743.1:c.*536_*541del	ENSP00000505073.1:n.*536_*541del
ENST00000680749.1:c.*154_*159del	ENSP00000505122.1:n.*154_*159del
ENST00000680798.1:c.*344_*349del	ENSP00000505670.1:n.*344_*349del
ENST00000680805.1:c.728_733del	ENSP00000505447.1:p.Gly243_Leu244del
ENST00000680844.1:c.*653_*658del	ENSP00000506541.1:n.*653_*658del
ENST00000680948.1:c.*736_*741del	ENSP00000505441.1:n.*736_*741del
ENST00000680964.1:c.869_874del	ENSP00000505961.1:p.Gly290_Leu291del
ENST00000681037.1:c.*2353_*2358del	ENSP00000506025.1:n.*2353_*2358del
ENST00000681063.1:c.*16_*21del	ENSP00000506616.1:n.*16_*21del
ENST00000681209.1:c.*524_*529del	ENSP00000505877.1:n.*524_*529del
ENST00000681278.1:n.1226_1231del
ENST00000681289.1:n.4864_4869del
ENST00000681361.1:c.*536_*541del	ENSP00000506679.1:n.*536_*541del
ENST00000681430.1:c.869_874del	ENSP00000506301.1:p.Gly290_Leu291del
ENST00000681446.1:c.*451_*456del	ENSP00000506244.1:n.*451_*456del
ENST00000681450.1:c.*540_*545del	ENSP00000505660.1:n.*540_*545del
ENST00000681548.1:c.*455_*460del	ENSP00000505275.1:n.*455_*460del
ENST00000681616.1:c.*528_*533del	ENSP00000505111.1:n.*528_*533del
ENST00000681621.1:c.*453_*458del	ENSP00000505770.1:n.*453_*458del
ENST00000681680.1:n.2964_2969del
ENST00000681720.1:c.*324_*329del	ENSP00000505438.1:n.*324_*329del
ENST00000681730.1:n.1091_1096del
ENST00000681790.1:c.611_616del	ENSP00000505130.1:p.Gly204_Leu205del
ENST00000681837.1:n.1485_1490del
ENST00000681913.1:n.2993_2998del
ENST00000681916.1:c.*637_*642del	ENSP00000506477.1:n.*637_*642del
ENST00000681930.1:n.2993_2998del
ENST00000370834.9:c.968_973del	ENSP00000359871.5:p.Gly323_Leu324del
ENST00000370841.8:c.869_874del	ENSP00000359878.4:p.Gly290_Leu291del
ENST00000420607.6:c.881_886del	ENSP00000409612.2:p.Gly294_Leu295del
ENST00000481374.1:n.20_25del
ENST00000525808.5:c.*455_*460del	ENSP00000434823.1:n.*455_*460del
ENST00000526129.5:c.*653_*658del	ENSP00000434092.1:n.*653_*658del
ENST00000526196.5:c.*637_*642del	ENSP00000431953.1:n.*637_*642del
ENST00000528016.1:c.83_88del	ENSP00000434284.1:p.Gly28_Leu29del
ENST00000529059.5:n.778_783del
ENST00000532207.5:n.599_604del
ENST00000534334.5:c.*453_*458del	ENSP00000435584.1:n.*453_*458del
ENST00000541113.5:c.761_766del	ENSP00000442324.1:p.Gly254_Leu255del
NM_000016.5:c.869_874del	NP_000007.1:p.Gly290_Leu291del
NM_001127328.2:c.881_886del	NP_001120800.1:p.Gly294_Leu295del
NM_001286042.1:c.761_766del	NP_001272971.1:p.Gly254_Leu255del
NM_001286043.1:c.968_973del	NP_001272972.1:p.Gly323_Leu324del
NM_001286044.1:c.302_307del	NP_001272973.1:p.Gly101_Leu102del
NM_000016.6:c.869_874del MANE Select	NP_000007.1:p.Gly290_Leu291del
NM_001127328.3:c.881_886del	NP_001120800.1:p.Gly294_Leu295del
NM_001286042.2:c.761_766del	NP_001272971.1:p.Gly254_Leu255del
NM_001286043.2:c.968_973del	NP_001272972.1:p.Gly323_Leu324del
NM_001286044.2:c.302_307del	NP_001272973.1:p.Gly101_Leu102del