Canonical Allele Identifier: CA2575781185

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348059_72348060del , CM000677.2:g.72348059_72348060del	GRCh38
NC_000015.9:g.72640400_72640401del , CM000677.1:g.72640400_72640401del	GRCh37
NC_000015.8:g.70427454_70427455del	NCBI36
NG_009017.1:g.33121_33122del
NG_009017.2:g.33121_33122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3408_3409del
ENST00000567027.6:c.1062_1063del	ENSP00000457521.2:p.Phe354LeufsTer13
ENST00000682061.1:c.*724_*725del	ENSP00000508316.1:n.*724_*725del
ENST00000682177.1:c.1105_1106del	ENSP00000507409.1:n.1105_1106del
ENST00000682461.1:c.1168_1169del	ENSP00000507308.1:n.1168_1169del
ENST00000682653.1:n.1093_1094del
ENST00000682657.1:c.*472_*473del	ENSP00000507753.1:n.*472_*473del
ENST00000682721.1:c.*865_*866del	ENSP00000507535.1:n.*865_*866del
ENST00000682843.1:c.*960_*961del	ENSP00000508173.1:n.*960_*961del
ENST00000683003.1:c.*472_*473del	ENSP00000507576.1:n.*472_*473del
ENST00000683133.1:c.1246_1247del	ENSP00000508108.1:n.1246_1247del
ENST00000683228.1:n.1093_1094del
ENST00000683243.1:c.*472_*473del	ENSP00000507042.1:n.*472_*473del
ENST00000683463.1:c.1062_1063del	ENSP00000507986.1:p.Phe354LeufsTer?
ENST00000683548.1:n.1093_1094del
ENST00000683579.1:c.*960_*961del	ENSP00000506867.1:n.*960_*961del
ENST00000683587.1:n.1093_1094del
ENST00000683681.1:c.1062_1063del	ENSP00000508110.1:p.Phe354LeufsTer24
ENST00000683735.1:c.*960_*961del	ENSP00000508336.1:n.*960_*961del
ENST00000683742.1:n.893_894del
ENST00000683853.1:c.1062_1063del	ENSP00000506834.1:p.Phe354LeufsTer?
ENST00000683860.1:c.1062_1063del	ENSP00000507179.1:p.Phe354LeufsTer24
ENST00000683884.1:c.1062_1063del	ENSP00000507004.1:p.Phe354LeufsTer24
ENST00000684041.1:c.1062_1063del	ENSP00000508382.1:p.Phe354LeufsTer24
ENST00000684125.1:c.1062_1063del	ENSP00000507320.1:p.Phe354LeufsTer13
ENST00000684203.1:n.2900_2901del
ENST00000684231.1:c.*472_*473del	ENSP00000507748.1:n.*472_*473del
ENST00000684263.1:c.1062_1063del	ENSP00000508369.1:p.Phe354LeufsTer?
ENST00000684305.1:c.1510_1511del	ENSP00000506819.1:n.1510_1511del
ENST00000684415.1:c.1062_1063del	ENSP00000507227.1:p.Phe354LeufsTer26
ENST00000684520.1:c.1062_1063del	ENSP00000506826.1:p.Phe354LeufsTer24
ENST00000684602.1:c.*728_*729del	ENSP00000507996.1:n.*728_*729del
ENST00000684667.1:c.1393_1394del	ENSP00000507003.1:n.1393_1394del
ENST00000268097.10:c.1062_1063del MANE Select	ENSP00000268097.6:p.Phe354LeufsTer24
ENST00000268097.9:c.1062_1063del	ENSP00000268097.5:p.Phe354LeufsTer24
ENST00000379915.4:c.413-1734_413-1733del	ENSP00000478716.1:n.413-1734_413-1733del
ENST00000563762.5:c.814_815del	ENSP00000456346.1:n.814_815del
ENST00000566304.5:c.1095_1096del	ENSP00000455114.1:p.Phe365LeufsTer24
ENST00000566672.5:c.*472_*473del	ENSP00000457037.1:n.*472_*473del
ENST00000567027.5:c.934_935del
ENST00000567159.5:c.1062_1063del	ENSP00000456489.1:p.Phe354LeufsTer24
ENST00000567411.5:c.*583_*584del	ENSP00000455545.1:n.*583_*584del
ENST00000568777.5:n.6466_6467del
ENST00000569410.5:c.1062_1063del	ENSP00000457125.1:p.Phe354LeufsTer?
NM_000520.4:c.1062_1063del	NP_000511.2:p.Phe354LeufsTer24
NM_000520.5:c.1062_1063del	NP_000511.2:p.Phe354LeufsTer24
NM_001318825.1:c.1095_1096del	NP_001305754.1:p.Phe365LeufsTer24
NR_134869.1:n.1563_1564del
NM_000520.6:c.1062_1063del MANE Select	NP_000511.2:p.Phe354LeufsTer24
NM_001318825.2:c.1095_1096del	NP_001305754.1:p.Phe365LeufsTer24
NR_134869.2:n.1104_1105del
NR_134869.3:n.1104_1105del