Canonical Allele Identifier: CA1176721457

Gene: ACADM

Linked Data

• dbSNP Id: rs1648080784

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75749497_75749498insCATGACTTTC , CM000663.2:g.75749497_75749498insCATGACTTTC	GRCh38
NC_000001.10:g.76215182_76215183insCATGACTTTC , CM000663.1:g.76215182_76215183insCATGACTTTC	GRCh37
NC_000001.9:g.75987770_75987771insCATGACTTTC	NCBI36
NG_007045.2:g.30140_30141insCATGACTTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.787_788insCATGACTTTC MANE Select	ENSP00000359878.5:p.Leu263SerfsTer2
ENST00000473018.3:n.2911_2912insCATGACTTTC
ENST00000532207.6:n.1676_1677insCATGACTTTC
ENST00000541113.6:c.787_788insCATGACTTTC	ENSP00000442324.2:p.Leu263SerfsTer2
ENST00000679509.1:n.1749_1750insCATGACTTTC
ENST00000679530.1:c.*555_*556insCATGACTTTC	ENSP00000506454.1:n.*555_*556insCATGACTTT...
ENST00000679615.1:n.2802_2803insCATGACTTTC
ENST00000679687.1:c.349_350insCATGACTTTC	ENSP00000506598.1:p.Leu117SerfsTer2
ENST00000679704.1:c.*553_*554insCATGACTTTC	ENSP00000505117.1:n.*553_*554insCATGACTTT...
ENST00000679709.1:c.*750_*751insCATGACTTTC	ENSP00000506623.1:n.*750_*751insCATGACTTT...
ENST00000679976.1:c.*371_*372insCATGACTTTC	ENSP00000505565.1:n.*371_*372insCATGACTTT...
ENST00000680166.1:n.4076_4077insCATGACTTTC
ENST00000680517.1:c.*175_*176insCATGACTTTC	ENSP00000505803.1:n.*175_*176insCATGACTTT...
ENST00000680582.1:n.1749_1750insCATGACTTTC
ENST00000680613.1:c.*158_*159insCATGACTTTC	ENSP00000506114.1:n.*158_*159insCATGACTTT...
ENST00000680662.1:c.*701_*702insCATGACTTTC	ENSP00000505080.1:n.*701_*702insCATGACTTT...
ENST00000680691.1:c.*450_*451insCATGACTTTC	ENSP00000506487.1:n.*450_*451insCATGACTTT...
ENST00000680694.1:c.*375_*376insCATGACTTTC	ENSP00000505658.1:n.*375_*376insCATGACTTT...
ENST00000680743.1:c.*454_*455insCATGACTTTC	ENSP00000505073.1:n.*454_*455insCATGACTTT...
ENST00000680749.1:c.*72_*73insCATGACTTTC	ENSP00000505122.1:n.*72_*73insCATGACTTTC
ENST00000680798.1:c.*262_*263insCATGACTTTC	ENSP00000505670.1:n.*262_*263insCATGACTTT...
ENST00000680805.1:c.709-954_709-953insCATGACTTTC	ENSP00000505447.1:n.709-954_709-953insCAT...
ENST00000680844.1:c.*571_*572insCATGACTTTC	ENSP00000506541.1:n.*571_*572insCATGACTTT...
ENST00000680948.1:c.*654_*655insCATGACTTTC	ENSP00000505441.1:n.*654_*655insCATGACTTT...
ENST00000680964.1:c.787_788insCATGACTTTC	ENSP00000505961.1:p.Leu263SerfsTer2
ENST00000681037.1:c.*2271_*2272insCATGACTTTC	ENSP00000506025.1:n.*2271_*2272insCATGACT...
ENST00000681063.1:c.600-954_600-953insCATGACTTTC	ENSP00000506616.1:n.600-954_600-953insCAT...
ENST00000681209.1:c.*442_*443insCATGACTTTC	ENSP00000505877.1:n.*442_*443insCATGACTTT...
ENST00000681278.1:n.1144_1145insCATGACTTTC
ENST00000681289.1:n.4782_4783insCATGACTTTC
ENST00000681361.1:c.*454_*455insCATGACTTTC	ENSP00000506679.1:n.*454_*455insCATGACTTT...
ENST00000681430.1:c.787_788insCATGACTTTC	ENSP00000506301.1:p.Leu263SerfsTer2
ENST00000681446.1:c.*369_*370insCATGACTTTC	ENSP00000506244.1:n.*369_*370insCATGACTTT...
ENST00000681450.1:c.*458_*459insCATGACTTTC	ENSP00000505660.1:n.*458_*459insCATGACTTT...
ENST00000681548.1:c.*373_*374insCATGACTTTC	ENSP00000505275.1:n.*373_*374insCATGACTTT...
ENST00000681616.1:c.*446_*447insCATGACTTTC	ENSP00000505111.1:n.*446_*447insCATGACTTT...
ENST00000681621.1:c.*371_*372insCATGACTTTC	ENSP00000505770.1:n.*371_*372insCATGACTTT...
ENST00000681680.1:n.2882_2883insCATGACTTTC
ENST00000681720.1:c.*242_*243insCATGACTTTC	ENSP00000505438.1:n.*242_*243insCATGACTTT...
ENST00000681730.1:n.1009_1010insCATGACTTTC
ENST00000681790.1:c.529_530insCATGACTTTC	ENSP00000505130.1:p.Leu177SerfsTer2
ENST00000681837.1:n.1403_1404insCATGACTTTC
ENST00000681913.1:n.2911_2912insCATGACTTTC
ENST00000681916.1:c.*555_*556insCATGACTTTC	ENSP00000506477.1:n.*555_*556insCATGACTTT...
ENST00000681930.1:n.2911_2912insCATGACTTTC
ENST00000370834.9:c.886_887insCATGACTTTC	ENSP00000359871.5:p.Leu296SerfsTer2
ENST00000370841.8:c.787_788insCATGACTTTC	ENSP00000359878.4:p.Leu263SerfsTer2
ENST00000420607.6:c.799_800insCATGACTTTC	ENSP00000409612.2:p.Leu267SerfsTer2
ENST00000525808.5:c.*373_*374insCATGACTTTC	ENSP00000434823.1:n.*373_*374insCATGACTTT...
ENST00000526129.5:c.*571_*572insCATGACTTTC	ENSP00000434092.1:n.*571_*572insCATGACTTT...
ENST00000526196.5:c.*555_*556insCATGACTTTC	ENSP00000431953.1:n.*555_*556insCATGACTTT...
ENST00000526930.1:n.560_561insCATGACTTTC
ENST00000528016.1:c.1_2insCATGACTTTC	ENSP00000434284.1:p.Leu1SerfsTer2
ENST00000529059.5:n.696_697insCATGACTTTC
ENST00000530953.6:c.*284_*285insCATGACTTTC	ENSP00000431372.1:n.*284_*285insCATGACTTT...
ENST00000532207.5:n.517_518insCATGACTTTC
ENST00000532509.5:c.*551_*552insCATGACTTTC	ENSP00000432522.1:n.*551_*552insCATGACTTT...
ENST00000534334.5:c.*371_*372insCATGACTTTC	ENSP00000435584.1:n.*371_*372insCATGACTTT...
ENST00000541113.5:c.679_680insCATGACTTTC	ENSP00000442324.1:p.Leu227SerfsTer2
NM_000016.5:c.787_788insCATGACTTTC	NP_000007.1:p.Leu263SerfsTer2
NM_001127328.2:c.799_800insCATGACTTTC	NP_001120800.1:p.Leu267SerfsTer2
NM_001286042.1:c.679_680insCATGACTTTC	NP_001272971.1:p.Leu227SerfsTer2
NM_001286043.1:c.886_887insCATGACTTTC	NP_001272972.1:p.Leu296SerfsTer2
NM_001286044.1:c.220_221insCATGACTTTC	NP_001272973.1:p.Leu74SerfsTer2
NM_000016.6:c.787_788insCATGACTTTC MANE Select	NP_000007.1:p.Leu263SerfsTer2
NM_001127328.3:c.799_800insCATGACTTTC	NP_001120800.1:p.Leu267SerfsTer2
NM_001286042.2:c.679_680insCATGACTTTC	NP_001272971.1:p.Leu227SerfsTer2
NM_001286043.2:c.886_887insCATGACTTTC	NP_001272972.1:p.Leu296SerfsTer2
NM_001286044.2:c.220_221insCATGACTTTC	NP_001272973.1:p.Leu74SerfsTer2