Canonical Allele Identifier: CA2186743717

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346641_72346643delinsGTT , CM000677.2:g.72346641_72346643delinsGTT	GRCh38
NC_000015.9:g.72638982_72638984delinsGTT , CM000677.1:g.72638982_72638984delinsGTT	GRCh37
NC_000015.8:g.70426036_70426038delinsGTT	NCBI36
NG_009017.1:g.34537_34539delinsAAC
NG_009017.2:g.34537_34539delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-318_1074-316delinsAAC	ENSP00000457521.2:n.1074-318_1074-316delinsAAC
ENST00000682061.1:c.*876_*878delinsAAC	ENSP00000508316.1:n.*876_*878delinsAAC
ENST00000682064.1:n.556_558delinsAAC
ENST00000682177.1:c.1257_1259delinsAAC	ENSP00000507409.1:n.1257_1259delinsAAC
ENST00000682235.1:n.553_555delinsAAC
ENST00000682461.1:c.1320_1322delinsAAC	ENSP00000507308.1:n.1320_1322delinsAAC
ENST00000682653.1:n.1534_1536delinsAAC
ENST00000682657.1:c.*484-318_*484-316delinsAAC	ENSP00000507753.1:n.*484-318_*484-316delinsAAC
ENST00000682721.1:c.*1017_*1019delinsAAC	ENSP00000507535.1:n.*1017_*1019delinsAAC
ENST00000682843.1:c.*972-318_*972-316delinsAAC	ENSP00000508173.1:n.*972-318_*972-316delinsAAC
ENST00000683003.1:c.*484-318_*484-316delinsAAC	ENSP00000507576.1:n.*484-318_*484-316delinsAAC
ENST00000683133.1:c.1398_1400delinsAAC	ENSP00000508108.1:n.1398_1400delinsAAC
ENST00000683243.1:c.*484-318_*484-316delinsAAC	ENSP00000507042.1:n.*484-318_*484-316delinsAAC
ENST00000683463.1:c.*19_*21delinsAAC	ENSP00000507986.1:n.*19_*21delinsAAC
ENST00000683548.1:n.1105-318_1105-316delinsAAC
ENST00000683579.1:c.*1112_*1114delinsAAC	ENSP00000506867.1:n.*1112_*1114delinsAAC
ENST00000683587.1:n.1178-318_1178-316delinsAAC
ENST00000683681.1:c.1214_1216delinsAAC	ENSP00000508110.1:p.Glu405=
ENST00000683735.1:c.*1045-318_*1045-316delinsAAC	ENSP00000508336.1:n.*1045-318_*1045-316delinsAAC
ENST00000683853.1:c.*19_*21delinsAAC	ENSP00000506834.1:n.*19_*21delinsAAC
ENST00000683860.1:c.1214_1216delinsAAC	ENSP00000507179.1:p.Glu405=
ENST00000683884.1:c.1147-318_1147-316delinsAAC	ENSP00000507004.1:n.1147-318_1147-316delinsAAC
ENST00000684041.1:c.1214_1216delinsAAC	ENSP00000508382.1:p.Glu405=
ENST00000684125.1:c.1074-318_1074-316delinsAAC	ENSP00000507320.1:n.1074-318_1074-316delinsAAC
ENST00000684203.1:n.2979_2981delinsAAC
ENST00000684231.1:c.*624_*626delinsAAC	ENSP00000507748.1:n.*624_*626delinsAAC
ENST00000684263.1:c.*154_*156delinsAAC	ENSP00000508369.1:n.*154_*156delinsAAC
ENST00000684305.1:c.1662_1664delinsAAC	ENSP00000506819.1:n.1662_1664delinsAAC
ENST00000684415.1:c.*81_*83delinsAAC	ENSP00000507227.1:n.*81_*83delinsAAC
ENST00000684520.1:c.1214_1216delinsAAC	ENSP00000506826.1:p.Glu405=
ENST00000684602.1:c.*880_*882delinsAAC	ENSP00000507996.1:n.*880_*882delinsAAC
ENST00000684667.1:c.1545_1547delinsAAC	ENSP00000507003.1:n.1545_1547delinsAAC
ENST00000268097.10:c.1214_1216delinsAAC MANE Select	ENSP00000268097.6:p.Glu405=
ENST00000268097.9:c.1214_1216delinsAAC	ENSP00000268097.5:p.Glu405=
ENST00000379915.4:c.413-318_413-316delinsAAC	ENSP00000478716.1:n.413-318_413-316delinsAAC
ENST00000563762.5:c.826-318_826-316delinsAAC	ENSP00000456346.1:n.826-318_826-316delinsAAC
ENST00000566304.5:c.1247_1249delinsAAC	ENSP00000455114.1:p.Glu416=
ENST00000566672.5:c.*624_*626delinsAAC	ENSP00000457037.1:n.*624_*626delinsAAC
ENST00000567027.5:c.946-318_946-316delinsAAC
ENST00000567159.5:c.1214_1216delinsAAC	ENSP00000456489.1:p.Glu405=
ENST00000567411.5:c.*735_*737delinsAAC	ENSP00000455545.1:n.*735_*737delinsAAC
ENST00000568777.5:n.6551-318_6551-316delinsAAC
ENST00000569410.5:c.*19_*21delinsAAC	ENSP00000457125.1:n.*19_*21delinsAAC
NM_000520.4:c.1214_1216delinsAAC	NP_000511.2:p.Glu405=
NM_000520.5:c.1214_1216delinsAAC	NP_000511.2:p.Glu405=
NM_001318825.1:c.1247_1249delinsAAC	NP_001305754.1:p.Glu416=
NR_134869.1:n.1575-318_1575-316delinsAAC
NM_000520.6:c.1214_1216delinsAAC MANE Select	NP_000511.2:p.Glu405=
NM_001318825.2:c.1247_1249delinsAAC	NP_001305754.1:p.Glu416=
NR_134869.2:n.1116-318_1116-316delinsAAC
NR_134869.3:n.1116-318_1116-316delinsAAC