Canonical Allele Identifier: CA2580063235

Gene: ACADM

Linked Data

• ClinVar Variation Id: 1724722
• ClinVar RCV Id: RCV002309990

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75740067_75740068del , CM000663.2:g.75740067_75740068del	GRCh38
NC_000001.10:g.76205752_76205753del , CM000663.1:g.76205752_76205753del	GRCh37
NC_000001.9:g.75978340_75978341del	NCBI36
NG_007045.2:g.20710_20711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.556_557del MANE Select	ENSP00000359878.5:p.Asn186TrpfsTer13
ENST00000473018.3:n.2680_2681del
ENST00000541113.6:c.556_557del	ENSP00000442324.2:p.Asn186TrpfsTer13
ENST00000679509.1:n.1518_1519del
ENST00000679530.1:c.*324_*325del	ENSP00000506454.1:n.*324_*325del
ENST00000679615.1:n.2680_2681del
ENST00000679687.1:c.118_119del	ENSP00000506598.1:p.Asn40TrpfsTer13
ENST00000679704.1:c.*322_*323del	ENSP00000505117.1:n.*322_*323del
ENST00000679709.1:c.*519_*520del	ENSP00000506623.1:n.*519_*520del
ENST00000679804.1:n.295_296del
ENST00000679976.1:c.*140_*141del	ENSP00000505565.1:n.*140_*141del
ENST00000680166.1:n.3845_3846del
ENST00000680517.1:c.*53_*54del	ENSP00000505803.1:n.*53_*54del
ENST00000680582.1:n.1518_1519del
ENST00000680613.1:c.556_557del	ENSP00000506114.1:p.Asn186TrpfsTer13
ENST00000680662.1:c.*470_*471del	ENSP00000505080.1:n.*470_*471del
ENST00000680691.1:c.*219_*220del	ENSP00000506487.1:n.*219_*220del
ENST00000680694.1:c.*144_*145del	ENSP00000505658.1:n.*144_*145del
ENST00000680743.1:c.*223_*224del	ENSP00000505073.1:n.*223_*224del
ENST00000680749.1:c.556_557del	ENSP00000505122.1:p.Asn186TrpfsTer13
ENST00000680798.1:c.*140_*141del	ENSP00000505670.1:n.*140_*141del
ENST00000680805.1:c.556_557del	ENSP00000505447.1:p.Asn186TrpfsTer13
ENST00000680844.1:c.*340_*341del	ENSP00000506541.1:n.*340_*341del
ENST00000680948.1:c.*423_*424del	ENSP00000505441.1:n.*423_*424del
ENST00000680964.1:c.556_557del	ENSP00000505961.1:p.Asn186TrpfsTer13
ENST00000681037.1:c.556_557del	ENSP00000506025.1:p.Asn186TrpfsTer13
ENST00000681063.1:c.556_557del	ENSP00000506616.1:p.Asn186TrpfsTer13
ENST00000681209.1:c.*320_*321del	ENSP00000505877.1:n.*320_*321del
ENST00000681278.1:n.913_914del
ENST00000681289.1:n.913_914del
ENST00000681361.1:c.*223_*224del	ENSP00000506679.1:n.*223_*224del
ENST00000681430.1:c.556_557del	ENSP00000506301.1:p.Asn186TrpfsTer13
ENST00000681446.1:c.*138_*139del	ENSP00000506244.1:n.*138_*139del
ENST00000681450.1:c.*227_*228del	ENSP00000505660.1:n.*227_*228del
ENST00000681548.1:c.*142_*143del	ENSP00000505275.1:n.*142_*143del
ENST00000681616.1:c.*324_*325del	ENSP00000505111.1:n.*324_*325del
ENST00000681621.1:c.*140_*141del	ENSP00000505770.1:n.*140_*141del
ENST00000681680.1:n.2680_2681del
ENST00000681720.1:c.*55-5739_*55-5738del	ENSP00000505438.1:n.*55-5739_*55-5738del
ENST00000681730.1:n.778_779del
ENST00000681790.1:c.298_299del	ENSP00000505130.1:p.Asn100TrpfsTer13
ENST00000681837.1:n.1172_1173del
ENST00000681913.1:n.2680_2681del
ENST00000681916.1:c.*324_*325del	ENSP00000506477.1:n.*324_*325del
ENST00000681930.1:n.2680_2681del
ENST00000370834.9:c.655_656del	ENSP00000359871.5:p.Asn219TrpfsTer13
ENST00000370841.8:c.556_557del	ENSP00000359878.4:p.Asn186TrpfsTer13
ENST00000420607.6:c.568_569del	ENSP00000409612.2:p.Asn190TrpfsTer13
ENST00000525808.5:c.*142_*143del	ENSP00000434823.1:n.*142_*143del
ENST00000526129.5:c.*340_*341del	ENSP00000434092.1:n.*340_*341del
ENST00000526196.5:c.*324_*325del	ENSP00000431953.1:n.*324_*325del
ENST00000526930.1:n.329_330del
ENST00000529059.5:n.465_466del
ENST00000530953.6:c.*53_*54del	ENSP00000431372.1:n.*53_*54del
ENST00000532509.5:c.*320_*321del	ENSP00000432522.1:n.*320_*321del
ENST00000534334.5:c.*140_*141del	ENSP00000435584.1:n.*140_*141del
ENST00000541113.5:c.448_449del	ENSP00000442324.1:p.Asn150TrpfsTer13
NM_000016.5:c.556_557del	NP_000007.1:p.Asn186TrpfsTer13
NM_001127328.2:c.568_569del	NP_001120800.1:p.Asn190TrpfsTer13
NM_001286042.1:c.448_449del	NP_001272971.1:p.Asn150TrpfsTer13
NM_001286043.1:c.655_656del	NP_001272972.1:p.Asn219TrpfsTer13
NM_001286044.1:c.-12_-11del	NP_001272973.1:n.-12_-11del
NM_000016.6:c.556_557del MANE Select	NP_000007.1:p.Asn186TrpfsTer13
NM_001127328.3:c.568_569del	NP_001120800.1:p.Asn190TrpfsTer13
NM_001286042.2:c.448_449del	NP_001272971.1:p.Asn150TrpfsTer13
NM_001286043.2:c.655_656del	NP_001272972.1:p.Asn219TrpfsTer13
NM_001286044.2:c.-12_-11del	NP_001272973.1:n.-12_-11del