Canonical Allele Identifier: CA913129

Gene: ACADM

Linked Data

• dbSNP Id: rs772298106
• ExAC: 1:76205718 CAAAGCAGAAAAG / C
• gnomAD v2: 1-76205718-CAAAGCAGAAAAG-C
• gnomAD v4: 1-75740033-CAAAGCAGAAAAG-C
• MyVariant Identifiers: chr1:g.76205719_76205730del (hg19) ; chr1:g.75740034_75740045del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740038_75740049del , CM000663.2:g.75740038_75740049del	GRCh38
NC_000001.10:g.76205723_76205734del , CM000663.1:g.76205723_76205734del	GRCh37
NC_000001.9:g.75978311_75978322del	NCBI36
NG_007045.2:g.20681_20692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.527_538del MANE Select	ENSP00000359878.5:p.Ala176_Lys179del
ENST00000473018.3:n.2651_2662del
ENST00000541113.6:c.527_538del	ENSP00000442324.2:p.Ala176_Lys179del
ENST00000679509.1:n.1489_1500del
ENST00000679530.1:c.*295_*306del	ENSP00000506454.1:n.*295_*306del
ENST00000679615.1:n.2651_2662del
ENST00000679687.1:c.89_100del	ENSP00000506598.1:p.Ala30_Lys33del
ENST00000679704.1:c.*293_*304del	ENSP00000505117.1:n.*293_*304del
ENST00000679709.1:c.*490_*501del	ENSP00000506623.1:n.*490_*501del
ENST00000679804.1:n.266_277del
ENST00000679976.1:c.*111_*122del	ENSP00000505565.1:n.*111_*122del
ENST00000680166.1:n.3816_3827del
ENST00000680517.1:c.*24_*35del	ENSP00000505803.1:n.*24_*35del
ENST00000680582.1:n.1489_1500del
ENST00000680613.1:c.527_538del	ENSP00000506114.1:p.Ala176_Lys179del
ENST00000680662.1:c.*441_*452del	ENSP00000505080.1:n.*441_*452del
ENST00000680691.1:c.*190_*201del	ENSP00000506487.1:n.*190_*201del
ENST00000680694.1:c.*115_*126del	ENSP00000505658.1:n.*115_*126del
ENST00000680743.1:c.*194_*205del	ENSP00000505073.1:n.*194_*205del
ENST00000680749.1:c.527_538del	ENSP00000505122.1:p.Ala176_Lys179del
ENST00000680798.1:c.*111_*122del	ENSP00000505670.1:n.*111_*122del
ENST00000680805.1:c.527_538del	ENSP00000505447.1:p.Ala176_Lys179del
ENST00000680844.1:c.*311_*322del	ENSP00000506541.1:n.*311_*322del
ENST00000680948.1:c.*394_*405del	ENSP00000505441.1:n.*394_*405del
ENST00000680964.1:c.527_538del	ENSP00000505961.1:p.Ala176_Lys179del
ENST00000681037.1:c.527_538del	ENSP00000506025.1:p.Ala176_Lys179del
ENST00000681063.1:c.527_538del	ENSP00000506616.1:p.Ala176_Lys179del
ENST00000681209.1:c.*291_*302del	ENSP00000505877.1:n.*291_*302del
ENST00000681278.1:n.884_895del
ENST00000681289.1:n.884_895del
ENST00000681361.1:c.*194_*205del	ENSP00000506679.1:n.*194_*205del
ENST00000681430.1:c.527_538del	ENSP00000506301.1:p.Ala176_Lys179del
ENST00000681446.1:c.*109_*120del	ENSP00000506244.1:n.*109_*120del
ENST00000681450.1:c.*198_*209del	ENSP00000505660.1:n.*198_*209del
ENST00000681548.1:c.*113_*124del	ENSP00000505275.1:n.*113_*124del
ENST00000681616.1:c.*295_*306del	ENSP00000505111.1:n.*295_*306del
ENST00000681621.1:c.*111_*122del	ENSP00000505770.1:n.*111_*122del
ENST00000681680.1:n.2651_2662del
ENST00000681720.1:c.*55-5768_*55-5757del	ENSP00000505438.1:n.*55-5768_*55-5757del
ENST00000681730.1:n.749_760del
ENST00000681790.1:c.269_280del	ENSP00000505130.1:p.Ala90_Lys93del
ENST00000681837.1:n.1143_1154del
ENST00000681913.1:n.2651_2662del
ENST00000681916.1:c.*295_*306del	ENSP00000506477.1:n.*295_*306del
ENST00000681930.1:n.2651_2662del
ENST00000370834.9:c.626_637del	ENSP00000359871.5:p.Ala209_Lys212del
ENST00000370841.8:c.527_538del	ENSP00000359878.4:p.Ala176_Lys179del
ENST00000420607.6:c.539_550del	ENSP00000409612.2:p.Ala180_Lys183del
ENST00000525808.5:c.*113_*124del	ENSP00000434823.1:n.*113_*124del
ENST00000526129.5:c.*311_*322del	ENSP00000434092.1:n.*311_*322del
ENST00000526196.5:c.*295_*306del	ENSP00000431953.1:n.*295_*306del
ENST00000526930.1:n.300_311del
ENST00000529059.5:n.436_447del
ENST00000530953.6:c.*24_*35del	ENSP00000431372.1:n.*24_*35del
ENST00000532509.5:c.*291_*302del	ENSP00000432522.1:n.*291_*302del
ENST00000534334.5:c.*111_*122del	ENSP00000435584.1:n.*111_*122del
ENST00000541113.5:c.419_430del	ENSP00000442324.1:p.Ala140_Lys143del
NM_000016.5:c.527_538del	NP_000007.1:p.Ala176_Lys179del
NM_001127328.2:c.539_550del	NP_001120800.1:p.Ala180_Lys183del
NM_001286042.1:c.419_430del	NP_001272971.1:p.Ala140_Lys143del
NM_001286043.1:c.626_637del	NP_001272972.1:p.Ala209_Lys212del
NM_001286044.1:c.-41_-30del	NP_001272973.1:n.-41_-30del
NM_000016.6:c.527_538del MANE Select	NP_000007.1:p.Ala176_Lys179del
NM_001127328.3:c.539_550del	NP_001120800.1:p.Ala180_Lys183del
NM_001286042.2:c.419_430del	NP_001272971.1:p.Ala140_Lys143del
NM_001286043.2:c.626_637del	NP_001272972.1:p.Ala209_Lys212del
NM_001286044.2:c.-41_-30del	NP_001272973.1:n.-41_-30del