Canonical Allele Identifier: CA224907428

Gene: ALG8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78109219_78109220del , CM000673.2:g.78109219_78109220del	GRCh38
NC_000011.9:g.77820265_77820266del , CM000673.1:g.77820265_77820266del	GRCh37
NC_000011.8:g.77497913_77497914del	NCBI36
NG_008926.1:g.35435_35436del

Transcript Alleles

HGVS	Amino-acid Change
NM_024079.5:c.1038+223_1038+224del MANE Select	NP_076984.2:n.1038+223_1038+224del
ENST00000299626.10:c.1038+223_1038+224del MANE Select	ENSP00000299626.5:n.1038+223_1038+224del
NM_001007027.2:c.1038+223_1038+224del	NP_001007028.1:n.1038+223_1038+224del
NM_001007027.3:c.1038+223_1038+224del	NP_001007028.1:n.1038+223_1038+224del
NM_024079.4:c.1038+223_1038+224del	NP_076984.2:n.1038+223_1038+224del
ENST00000299626.9:c.1038+223_1038+224del	ENSP00000299626.5:n.1038+223_1038+224del
ENST00000376156.7:c.1038+223_1038+224del	ENSP00000365326.3:n.1038+223_1038+224del
ENST00000524925.1:n.337-2273_337-2272del
ENST00000524925.2:n.1150+223_1150+224del
ENST00000525761.3:c.774+223_774+224del	ENSP00000431357.3:n.774+223_774+224del
ENST00000525783.5:c.242+223_242+224del
ENST00000525783.6:c.774+223_774+224del	ENSP00000434066.2:n.774+223_774+224del
ENST00000525870.6:c.1038+223_1038+224del	ENSP00000435417.2:n.1038+223_1038+224del
ENST00000526737.5:c.*670+223_*670+224del	ENSP00000436366.1:n.*670+223_*670+224del
ENST00000526737.6:c.*569+223_*569+224del	ENSP00000436366.2:n.*569+223_*569+224del
ENST00000526849.5:c.85+223_85+224del	ENSP00000434388.1:n.85+223_85+224del
ENST00000526849.6:c.942+223_942+224del	ENSP00000434388.2:n.942+223_942+224del
ENST00000527099.2:c.774+223_774+224del	ENSP00000436064.2:n.774+223_774+224del
ENST00000529139.6:c.899-2307_899-2306del	ENSP00000432953.2:n.899-2307_899-2306del
ENST00000530608.5:c.178-2307_178-2306del
ENST00000530608.6:c.837+223_837+224del	ENSP00000432381.2:n.837+223_837+224del
ENST00000530910.6:c.774+223_774+224del	ENSP00000437033.2:n.774+223_774+224del
ENST00000532306.5:c.399-2273_399-2272del
ENST00000532306.6:c.778-2273_778-2272del	ENSP00000435626.2:n.778-2273_778-2272del
ENST00000532440.5:c.492+223_492+224del	ENSP00000433429.1:n.492+223_492+224del
ENST00000532440.6:c.1038+223_1038+224del	ENSP00000433429.2:n.1038+223_1038+224del
ENST00000532552.2:n.261+223_261+224del
ENST00000615266.4:c.1038+223_1038+224del	ENSP00000480742.1:n.1038+223_1038+224del
ENST00000615266.5:c.1038+223_1038+224del	ENSP00000480742.2:n.1038+223_1038+224del
ENST00000679444.1:c.774+223_774+224del	ENSP00000506099.1:n.774+223_774+224del
ENST00000679497.1:c.774+223_774+224del	ENSP00000505407.1:n.774+223_774+224del
ENST00000679539.1:c.1038+223_1038+224del	ENSP00000504910.1:n.1038+223_1038+224del
ENST00000679559.1:c.1038+223_1038+224del	ENSP00000505433.1:n.1038+223_1038+224del
ENST00000679581.1:n.1774+223_1774+224del
ENST00000679648.1:c.*569+223_*569+224del	ENSP00000505726.1:n.*569+223_*569+224del
ENST00000679685.1:c.*422+223_*422+224del	ENSP00000505698.1:n.*422+223_*422+224del
ENST00000679697.1:c.898+3431_898+3432del	ENSP00000505696.1:n.898+3431_898+3432del
ENST00000679874.1:c.*569+223_*569+224del	ENSP00000506314.1:n.*569+223_*569+224del
ENST00000679986.1:c.*569+223_*569+224del	ENSP00000505614.1:n.*569+223_*569+224del
ENST00000680063.1:c.*569+223_*569+224del	ENSP00000504928.1:n.*569+223_*569+224del
ENST00000680101.1:c.774+223_774+224del	ENSP00000504917.1:n.774+223_774+224del
ENST00000680142.1:n.905-2307_905-2306del
ENST00000680223.1:c.1038+223_1038+224del	ENSP00000505023.1:n.1038+223_1038+224del
ENST00000680256.1:c.1041+223_1041+224del	ENSP00000505074.1:n.1041+223_1041+224del
ENST00000680329.1:c.774+223_774+224del	ENSP00000506215.1:n.774+223_774+224del
ENST00000680398.1:c.1038+223_1038+224del	ENSP00000506189.1:n.1038+223_1038+224del
ENST00000680399.1:c.899-2307_899-2306del	ENSP00000505984.1:n.899-2307_899-2306del
ENST00000680459.1:c.*661+223_*661+224del	ENSP00000506617.1:n.*661+223_*661+224del
ENST00000680467.1:c.899-2273_899-2272del	ENSP00000505609.1:n.899-2273_899-2272del
ENST00000680499.1:c.774+223_774+224del	ENSP00000506092.1:n.774+223_774+224del
ENST00000680580.1:c.774+223_774+224del	ENSP00000506170.1:n.774+223_774+224del
ENST00000680643.1:c.1038+223_1038+224del	ENSP00000505207.1:n.1038+223_1038+224del
ENST00000680761.1:c.774+223_774+224del	ENSP00000506421.1:n.774+223_774+224del
ENST00000680797.1:c.*569+223_*569+224del	ENSP00000506717.1:n.*569+223_*569+224del
ENST00000680829.1:c.774+223_774+224del	ENSP00000506408.1:n.774+223_774+224del
ENST00000680866.1:c.1038+223_1038+224del	ENSP00000505649.1:n.1038+223_1038+224del
ENST00000680996.1:c.774+223_774+224del	ENSP00000505468.1:n.774+223_774+224del
ENST00000681221.1:c.774+223_774+224del	ENSP00000505136.1:n.774+223_774+224del
ENST00000681225.1:c.774+223_774+224del	ENSP00000505016.1:n.774+223_774+224del
ENST00000681351.1:c.774+223_774+224del	ENSP00000506652.1:n.774+223_774+224del
ENST00000681384.1:c.635-2273_635-2272del	ENSP00000506249.1:n.635-2273_635-2272del
ENST00000681417.1:c.774+223_774+224del	ENSP00000505965.1:n.774+223_774+224del
ENST00000681489.1:c.774+223_774+224del	ENSP00000505200.1:n.774+223_774+224del
ENST00000681575.1:c.774+223_774+224del	ENSP00000505743.1:n.774+223_774+224del
ENST00000681699.1:c.867+223_867+224del	ENSP00000504969.1:n.867+223_867+224del
ENST00000681723.1:c.774+223_774+224del	ENSP00000506059.1:n.774+223_774+224del
ENST00000681765.1:c.635-2307_635-2306del	ENSP00000505811.1:n.635-2307_635-2306del
ENST00000681853.1:n.1732+223_1732+224del
ENST00000681957.1:c.1038+223_1038+224del	ENSP00000506056.1:n.1038+223_1038+224del
XM_005274247.2:c.1011+223_1011+224del	XP_005274304.1:n.1011+223_1011+224del
XM_005274247.3:c.1011+223_1011+224del	XP_005274304.1:n.1011+223_1011+224del
XM_011545251.1:c.899-2307_899-2306del	XP_011543553.1:n.899-2307_899-2306del
XM_011545252.1:c.774+223_774+224del	XP_011543554.1:n.774+223_774+224del
XM_011545252.2:c.774+223_774+224del	XP_011543554.1:n.774+223_774+224del
XM_017018274.1:c.1011+223_1011+224del	XP_016873763.1:n.1011+223_1011+224del
XR_001747956.1:n.1860+223_1860+224del
XR_428923.2:n.1110+223_1110+224del
XR_428923.4:n.1093+223_1093+224del
XR_950044.1:n.1110+223_1110+224del
XR_950044.3:n.1093+223_1093+224del
XR_950045.1:n.1110+223_1110+224del
XR_950045.3:n.1093+223_1093+224del