Canonical Allele Identifier: CA2646246264

Gene: ACADM

Linked Data

• gnomAD v4: 1-75728404-C-CGTTTTCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75728404_75728405insGTTTTCAT , CM000663.2:g.75728404_75728405insGTTTTCAT	GRCh38
NC_000001.10:g.76194089_76194090insGTTTTCAT , CM000663.1:g.76194089_76194090insGTTTTCAT	GRCh37
NC_000001.9:g.75966677_75966678insGTTTTCAT	NCBI36
NG_007045.2:g.9047_9048insGTTTTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370841.9:c.34_35insGTTTTCAT MANE Select	ENSP00000359878.5:p.Leu12ArgfsTer4
ENST00000473018.3:n.391_392insGTTTTCAT
ENST00000525881.6:n.391_392insGTTTTCAT
ENST00000541113.6:c.34_35insGTTTTCAT	ENSP00000442324.2:p.Leu12ArgfsTer4
ENST00000679509.1:n.391_392insGTTTTCAT
ENST00000679530.1:c.34_35insGTTTTCAT	ENSP00000506454.1:p.Leu12ArgfsTer4
ENST00000679615.1:n.391_392insGTTTTCAT
ENST00000679687.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000506598.1:n.30+3587_30+3588insGTTTTCAT
ENST00000679704.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000505117.1:n.30+3587_30+3588insGTTTTCAT
ENST00000679709.1:c.156_157insGTTTTCAT	ENSP00000506623.1:p.Ter53ValextTer23
ENST00000679804.1:n.39+3587_39+3588insGTTTTCAT
ENST00000679976.1:c.34_35insGTTTTCAT	ENSP00000505565.1:p.Leu12ArgfsTer4
ENST00000680166.1:n.1556_1557insGTTTTCAT
ENST00000680517.1:c.34_35insGTTTTCAT	ENSP00000505803.1:p.Leu12ArgfsTer4
ENST00000680582.1:n.391_392insGTTTTCAT
ENST00000680613.1:c.34_35insGTTTTCAT	ENSP00000506114.1:p.Leu12ArgfsTer4
ENST00000680662.1:c.34_35insGTTTTCAT	ENSP00000505080.1:p.Leu12ArgfsTer4
ENST00000680691.1:c.34_35insGTTTTCAT	ENSP00000506487.1:p.Leu12ArgfsTer4
ENST00000680694.1:c.34_35insGTTTTCAT	ENSP00000505658.1:p.Leu12ArgfsTer4
ENST00000680743.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000505073.1:n.30+3587_30+3588insGTTTTCAT
ENST00000680749.1:c.34_35insGTTTTCAT	ENSP00000505122.1:p.Leu12ArgfsTer4
ENST00000680798.1:c.34_35insGTTTTCAT	ENSP00000505670.1:p.Leu12ArgfsTer4
ENST00000680805.1:c.34_35insGTTTTCAT	ENSP00000505447.1:p.Leu12ArgfsTer4
ENST00000680844.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000506541.1:n.30+3587_30+3588insGTTTTCAT
ENST00000680948.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000505441.1:n.30+3587_30+3588insGTTTTCAT
ENST00000680964.1:c.34_35insGTTTTCAT	ENSP00000505961.1:p.Leu12ArgfsTer4
ENST00000681037.1:c.34_35insGTTTTCAT	ENSP00000506025.1:p.Leu12ArgfsTer4
ENST00000681063.1:c.34_35insGTTTTCAT	ENSP00000506616.1:p.Leu12ArgfsTer4
ENST00000681209.1:c.34_35insGTTTTCAT	ENSP00000505877.1:p.Leu12ArgfsTer4
ENST00000681278.1:n.391_392insGTTTTCAT
ENST00000681289.1:n.391_392insGTTTTCAT
ENST00000681361.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000506679.1:n.30+3587_30+3588insGTTTTCAT
ENST00000681430.1:c.34_35insGTTTTCAT	ENSP00000506301.1:p.Leu12ArgfsTer4
ENST00000681446.1:c.34_35insGTTTTCAT	ENSP00000506244.1:p.Leu12ArgfsTer4
ENST00000681450.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000505660.1:n.30+3587_30+3588insGTTTTCAT
ENST00000681548.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000505275.1:n.30+3587_30+3588insGTTTTCAT
ENST00000681616.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000505111.1:n.30+3587_30+3588insGTTTTCAT
ENST00000681621.1:c.34_35insGTTTTCAT	ENSP00000505770.1:p.Leu12ArgfsTer4
ENST00000681680.1:n.391_392insGTTTTCAT
ENST00000681720.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000505438.1:n.30+3587_30+3588insGTTTTCAT
ENST00000681790.1:c.-249-3330_-249-3329insGTTTTCAT	ENSP00000505130.1:n.-249-3330_-249-3329insGTTTTCAT
ENST00000681837.1:n.129+3587_129+3588insGTTTTCAT
ENST00000681913.1:n.391_392insGTTTTCAT
ENST00000681916.1:c.30+3587_30+3588insGTTTTCAT	ENSP00000506477.1:n.30+3587_30+3588insGTTTTCAT
ENST00000681930.1:n.391_392insGTTTTCAT
ENST00000370834.9:c.34_35insGTTTTCAT	ENSP00000359871.5:p.Leu12ArgfsTer4
ENST00000370841.8:c.34_35insGTTTTCAT	ENSP00000359878.4:p.Leu12ArgfsTer4
ENST00000420607.6:c.46_47insGTTTTCAT	ENSP00000409612.2:p.Leu16ArgfsTer4
ENST00000473018.2:n.67_68insGTTTTCAT
ENST00000525808.5:c.30+3587_30+3588insGTTTTCAT	ENSP00000434823.1:n.30+3587_30+3588insGTTTTCAT
ENST00000525881.5:n.127+3587_127+3588insGTTTTCAT
ENST00000526129.5:c.34_35insGTTTTCAT	ENSP00000434092.1:p.Leu12ArgfsTer4
ENST00000526196.5:c.30+3587_30+3588insGTTTTCAT	ENSP00000431953.1:n.30+3587_30+3588insGTTTTCAT
ENST00000530953.6:c.34_35insGTTTTCAT	ENSP00000431372.1:p.Leu12ArgfsTer4
ENST00000532509.5:c.34_35insGTTTTCAT	ENSP00000432522.1:p.Leu12ArgfsTer4
ENST00000534146.5:n.113_114insGTTTTCAT
ENST00000534334.5:c.34_35insGTTTTCAT	ENSP00000435584.1:p.Leu12ArgfsTer4
ENST00000541113.5:c.10+3587_10+3588insGTTTTCAT	ENSP00000442324.1:n.10+3587_10+3588insGTTTTCAT
NM_000016.5:c.34_35insGTTTTCAT	NP_000007.1:p.Leu12ArgfsTer4
NM_001127328.2:c.46_47insGTTTTCAT	NP_001120800.1:p.Leu16ArgfsTer4
NM_001286042.1:c.10+3587_10+3588insGTTTTCAT	NP_001272971.1:n.10+3587_10+3588insGTTTTCAT
NM_001286043.1:c.34_35insGTTTTCAT	NP_001272972.1:p.Leu12ArgfsTer4
NM_001286044.1:c.-268+3587_-268+3588insGTTTTCAT	NP_001272973.1:n.-268+3587_-268+3588insGTTTTCAT
NM_000016.6:c.34_35insGTTTTCAT MANE Select	NP_000007.1:p.Leu12ArgfsTer4
NM_001127328.3:c.46_47insGTTTTCAT	NP_001120800.1:p.Leu16ArgfsTer4
NM_001286042.2:c.10+3587_10+3588insGTTTTCAT	NP_001272971.1:n.10+3587_10+3588insGTTTTCAT
NM_001286043.2:c.34_35insGTTTTCAT	NP_001272972.1:p.Leu12ArgfsTer4
NM_001286044.2:c.-268+3587_-268+3588insGTTTTCAT	NP_001272973.1:n.-268+3587_-268+3588insGTTTTCAT