Canonical Allele Identifier: CA913240

Gene: ACADM

Linked Data

• dbSNP Id: rs779322764
• ExAC: 1:76216234 A / AG
• gnomAD v2: 1-76216234-A-AG
• MyVariant Identifiers: chr1:g.76216234_76216235insG (hg19) ; chr1:g.75750549_75750550insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750549_75750550insG , CM000663.2:g.75750549_75750550insG	GRCh38
NC_000001.10:g.76216234_76216235insG , CM000663.1:g.76216234_76216235insG	GRCh37
NC_000001.9:g.75988822_75988823insG	NCBI36
NG_007045.2:g.31192_31193insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.945+3_945+4insG MANE Select	ENSP00000359878.5:n.945+3_945+4insG
ENST00000473018.3:n.3069+3_3069+4insG
ENST00000532207.6:n.1834+3_1834+4insG
ENST00000541113.6:c.849+990_849+991insG	ENSP00000442324.2:n.849+990_849+991insG
ENST00000679509.1:n.1907+3_1907+4insG
ENST00000679530.1:c.*713+3_*713+4insG	ENSP00000506454.1:n.*713+3_*713+4insG
ENST00000679615.1:n.2960+3_2960+4insG
ENST00000679687.1:c.507+3_507+4insG	ENSP00000506598.1:n.507+3_507+4insG
ENST00000679704.1:c.*711+3_*711+4insG	ENSP00000505117.1:n.*711+3_*711+4insG
ENST00000679709.1:c.*908+3_*908+4insG	ENSP00000506623.1:n.*908+3_*908+4insG
ENST00000679976.1:c.*529+3_*529+4insG	ENSP00000505565.1:n.*529+3_*529+4insG
ENST00000680166.1:n.4234+3_4234+4insG
ENST00000680315.1:n.828+3_828+4insG
ENST00000680517.1:c.*333+3_*333+4insG	ENSP00000505803.1:n.*333+3_*333+4insG
ENST00000680582.1:n.1907+3_1907+4insG
ENST00000680613.1:c.*316+3_*316+4insG	ENSP00000506114.1:n.*316+3_*316+4insG
ENST00000680662.1:c.*859+3_*859+4insG	ENSP00000505080.1:n.*859+3_*859+4insG
ENST00000680691.1:c.*608+3_*608+4insG	ENSP00000506487.1:n.*608+3_*608+4insG
ENST00000680694.1:c.*533+3_*533+4insG	ENSP00000505658.1:n.*533+3_*533+4insG
ENST00000680743.1:c.*612+3_*612+4insG	ENSP00000505073.1:n.*612+3_*612+4insG
ENST00000680749.1:c.*230+3_*230+4insG	ENSP00000505122.1:n.*230+3_*230+4insG
ENST00000680798.1:c.*420+3_*420+4insG	ENSP00000505670.1:n.*420+3_*420+4insG
ENST00000680805.1:c.804+3_804+4insG	ENSP00000505447.1:n.804+3_804+4insG
ENST00000680844.1:c.*729+3_*729+4insG	ENSP00000506541.1:n.*729+3_*729+4insG
ENST00000680948.1:c.*812+3_*812+4insG	ENSP00000505441.1:n.*812+3_*812+4insG
ENST00000680964.1:c.945+3_945+4insG	ENSP00000505961.1:n.945+3_945+4insG
ENST00000681037.1:c.*2429+3_*2429+4insG	ENSP00000506025.1:n.*2429+3_*2429+4insG
ENST00000681063.1:c.*92+3_*92+4insG	ENSP00000506616.1:n.*92+3_*92+4insG
ENST00000681209.1:c.*600+3_*600+4insG	ENSP00000505877.1:n.*600+3_*600+4insG
ENST00000681278.1:n.1305_1306insG
ENST00000681289.1:n.4940+3_4940+4insG
ENST00000681361.1:c.*612+3_*612+4insG	ENSP00000506679.1:n.*612+3_*612+4insG
ENST00000681430.1:c.945+3_945+4insG	ENSP00000506301.1:n.945+3_945+4insG
ENST00000681446.1:c.*527+3_*527+4insG	ENSP00000506244.1:n.*527+3_*527+4insG
ENST00000681450.1:c.*616+3_*616+4insG	ENSP00000505660.1:n.*616+3_*616+4insG
ENST00000681548.1:c.*531+3_*531+4insG	ENSP00000505275.1:n.*531+3_*531+4insG
ENST00000681616.1:c.*604+3_*604+4insG	ENSP00000505111.1:n.*604+3_*604+4insG
ENST00000681621.1:c.*529+3_*529+4insG	ENSP00000505770.1:n.*529+3_*529+4insG
ENST00000681680.1:n.3040+3_3040+4insG
ENST00000681720.1:c.*400+3_*400+4insG	ENSP00000505438.1:n.*400+3_*400+4insG
ENST00000681730.1:n.1167+3_1167+4insG
ENST00000681790.1:c.687+3_687+4insG	ENSP00000505130.1:n.687+3_687+4insG
ENST00000681837.1:n.1561+3_1561+4insG
ENST00000681913.1:n.3069+3_3069+4insG
ENST00000681916.1:c.*713+3_*713+4insG	ENSP00000506477.1:n.*713+3_*713+4insG
ENST00000681930.1:n.3069+3_3069+4insG
ENST00000370834.9:c.1044+3_1044+4insG	ENSP00000359871.5:n.1044+3_1044+4insG
ENST00000370841.8:c.945+3_945+4insG	ENSP00000359878.4:n.945+3_945+4insG
ENST00000420607.6:c.957+3_957+4insG	ENSP00000409612.2:n.957+3_957+4insG
ENST00000481374.1:n.96+3_96+4insG
ENST00000525808.5:c.*531+3_*531+4insG	ENSP00000434823.1:n.*531+3_*531+4insG
ENST00000526129.5:c.*729+3_*729+4insG	ENSP00000434092.1:n.*729+3_*729+4insG
ENST00000526196.5:c.*713+3_*713+4insG	ENSP00000431953.1:n.*713+3_*713+4insG
ENST00000528016.1:c.159+3_159+4insG	ENSP00000434284.1:n.159+3_159+4insG
ENST00000529059.5:n.854+3_854+4insG
ENST00000532207.5:n.675+3_675+4insG
ENST00000534334.5:c.*529+3_*529+4insG	ENSP00000435584.1:n.*529+3_*529+4insG
ENST00000541113.5:c.837+3_837+4insG	ENSP00000442324.1:n.837+3_837+4insG
NM_000016.5:c.945+3_945+4insG	NP_000007.1:n.945+3_945+4insG
NM_001127328.2:c.957+3_957+4insG	NP_001120800.1:n.957+3_957+4insG
NM_001286042.1:c.837+3_837+4insG	NP_001272971.1:n.837+3_837+4insG
NM_001286043.1:c.1044+3_1044+4insG	NP_001272972.1:n.1044+3_1044+4insG
NM_001286044.1:c.378+3_378+4insG	NP_001272973.1:n.378+3_378+4insG
NM_000016.6:c.945+3_945+4insG MANE Select	NP_000007.1:n.945+3_945+4insG
NM_001127328.3:c.957+3_957+4insG	NP_001120800.1:n.957+3_957+4insG
NM_001286042.2:c.837+3_837+4insG	NP_001272971.1:n.837+3_837+4insG
NM_001286043.2:c.1044+3_1044+4insG	NP_001272972.1:n.1044+3_1044+4insG
NM_001286044.2:c.378+3_378+4insG	NP_001272973.1:n.378+3_378+4insG