Canonical Allele Identifier: CA2695220950

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347726_72347738del , CM000677.2:g.72347726_72347738del	GRCh38
NC_000015.9:g.72640067_72640079del , CM000677.1:g.72640067_72640079del	GRCh37
NC_000015.8:g.70427121_70427133del	NCBI36
NG_009017.1:g.33444_33456del
NG_009017.2:g.33444_33456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+312_1073+324del	ENSP00000457521.2:n.1073+312_1073+324del
ENST00000682061.1:c.*758_*770del	ENSP00000508316.1:n.*758_*770del
ENST00000682177.1:c.1139_1151del	ENSP00000507409.1:n.1139_1151del
ENST00000682461.1:c.1202_1214del	ENSP00000507308.1:n.1202_1214del
ENST00000682653.1:n.1416_1428del
ENST00000682657.1:c.*483+312_*483+324del	ENSP00000507753.1:n.*483+312_*483+324del
ENST00000682721.1:c.*899_*911del	ENSP00000507535.1:n.*899_*911del
ENST00000682843.1:c.*971+312_*971+324del	ENSP00000508173.1:n.*971+312_*971+324del
ENST00000683003.1:c.*483+312_*483+324del	ENSP00000507576.1:n.*483+312_*483+324del
ENST00000683133.1:c.1280_1292del	ENSP00000508108.1:n.1280_1292del
ENST00000683228.1:n.1127_1139del
ENST00000683243.1:c.*483+312_*483+324del	ENSP00000507042.1:n.*483+312_*483+324del
ENST00000683463.1:c.1073+312_1073+324del	ENSP00000507986.1:n.1073+312_1073+324del
ENST00000683548.1:n.1104+312_1104+324del
ENST00000683579.1:c.*994_*1006del	ENSP00000506867.1:n.*994_*1006del
ENST00000683587.1:n.1127_1139del
ENST00000683681.1:c.1096_1108del	ENSP00000508110.1:p.Tyr366MetfsTer12
ENST00000683735.1:c.*994_*1006del	ENSP00000508336.1:n.*994_*1006del
ENST00000683742.1:n.927_939del
ENST00000683853.1:c.1073+312_1073+324del	ENSP00000506834.1:n.1073+312_1073+324del
ENST00000683860.1:c.1096_1108del	ENSP00000507179.1:p.Tyr366MetfsTer12
ENST00000683884.1:c.1096_1108del	ENSP00000507004.1:p.Tyr366MetfsTer12
ENST00000684041.1:c.1096_1108del	ENSP00000508382.1:p.Tyr366MetfsTer12
ENST00000684125.1:c.1073+312_1073+324del	ENSP00000507320.1:n.1073+312_1073+324del
ENST00000684203.1:n.2911+312_2911+324del
ENST00000684231.1:c.*506_*518del	ENSP00000507748.1:n.*506_*518del
ENST00000684263.1:c.*36_*48del	ENSP00000508369.1:n.*36_*48del
ENST00000684305.1:c.1544_1556del	ENSP00000506819.1:n.1544_1556del
ENST00000684415.1:c.*13+295_*13+307del	ENSP00000507227.1:n.*13+295_*13+307del
ENST00000684520.1:c.1096_1108del	ENSP00000506826.1:p.Tyr366MetfsTer12
ENST00000684602.1:c.*762_*774del	ENSP00000507996.1:n.*762_*774del
ENST00000684667.1:c.1427_1439del	ENSP00000507003.1:n.1427_1439del
ENST00000268097.10:c.1096_1108del MANE Select	ENSP00000268097.6:p.Tyr366MetfsTer12
ENST00000268097.9:c.1096_1108del	ENSP00000268097.5:p.Tyr366MetfsTer12
ENST00000379915.4:c.413-1411_413-1399del	ENSP00000478716.1:n.413-1411_413-1399del
ENST00000563762.5:c.825+312_825+324del	ENSP00000456346.1:n.825+312_825+324del
ENST00000566304.5:c.1129_1141del	ENSP00000455114.1:p.Tyr377MetfsTer12
ENST00000566672.5:c.*506_*518del	ENSP00000457037.1:n.*506_*518del
ENST00000567027.5:c.945+312_945+324del
ENST00000567159.5:c.1096_1108del	ENSP00000456489.1:p.Tyr366MetfsTer12
ENST00000567411.5:c.*617_*629del	ENSP00000455545.1:n.*617_*629del
ENST00000568777.5:n.6500_6512del
ENST00000569410.5:c.1073+312_1073+324del	ENSP00000457125.1:n.1073+312_1073+324del
NM_000520.4:c.1096_1108del	NP_000511.2:p.Tyr366MetfsTer12
NM_000520.5:c.1096_1108del	NP_000511.2:p.Tyr366MetfsTer12
NM_001318825.1:c.1129_1141del	NP_001305754.1:p.Tyr377MetfsTer12
NR_134869.1:n.1574+312_1574+324del
NM_000520.6:c.1096_1108del MANE Select	NP_000511.2:p.Tyr366MetfsTer12
NM_001318825.2:c.1129_1141del	NP_001305754.1:p.Tyr377MetfsTer12
NR_134869.2:n.1115+312_1115+324del
NR_134869.3:n.1115+312_1115+324del