Canonical Allele Identifier: CA971330869
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72347278_72347280del , CM000677.2:g.72347278_72347280del GRCh38
NC_000015.9:g.72639619_72639621del , CM000677.1:g.72639619_72639621del GRCh37
NC_000015.8:g.70426673_70426675del NCBI36
NG_009017.1:g.33900_33902del
NG_009017.2:g.33900_33902del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1073+768_1073+770del ENSP00000457521.2:n.1073+768_1073+770del
ENST00000682061.1:c.*808+406_*808+408del ENSP00000508316.1:n.*808+406_*808+408del
ENST00000682177.1:c.1189+406_1189+408del ENSP00000507409.1:n.1189+406_1189+408del
ENST00000682461.1:c.1252+406_1252+408del ENSP00000507308.1:n.1252+406_1252+408del
ENST00000682653.1:n.1466+406_1466+408del
ENST00000682657.1:c.*483+768_*483+770del ENSP00000507753.1:n.*483+768_*483+770del
ENST00000682721.1:c.*949+406_*949+408del ENSP00000507535.1:n.*949+406_*949+408del
ENST00000682843.1:c.*971+768_*971+770del ENSP00000508173.1:n.*971+768_*971+770del
ENST00000683003.1:c.*483+768_*483+770del ENSP00000507576.1:n.*483+768_*483+770del
ENST00000683133.1:c.1330+406_1330+408del ENSP00000508108.1:n.1330+406_1330+408del
ENST00000683228.1:n.1583_1585del
ENST00000683243.1:c.*483+768_*483+770del ENSP00000507042.1:n.*483+768_*483+770del
ENST00000683463.1:c.1074-570_1074-568del ENSP00000507986.1:n.1074-570_1074-568del
ENST00000683548.1:n.1104+768_1104+770del
ENST00000683579.1:c.*1044+406_*1044+408del ENSP00000506867.1:n.*1044+406_*1044+408del
ENST00000683587.1:n.1177+406_1177+408del
ENST00000683681.1:c.1146+406_1146+408del ENSP00000508110.1:n.1146+406_1146+408del
ENST00000683735.1:c.*1044+406_*1044+408del ENSP00000508336.1:n.*1044+406_*1044+408del
ENST00000683742.1:n.1383_1385del
ENST00000683853.1:c.1074-570_1074-568del ENSP00000506834.1:n.1074-570_1074-568del
ENST00000683860.1:c.1146+406_1146+408del ENSP00000507179.1:n.1146+406_1146+408del
ENST00000683884.1:c.1146+406_1146+408del ENSP00000507004.1:n.1146+406_1146+408del
ENST00000684041.1:c.1146+406_1146+408del ENSP00000508382.1:n.1146+406_1146+408del
ENST00000684125.1:c.1073+768_1073+770del ENSP00000507320.1:n.1073+768_1073+770del
ENST00000684203.1:n.2912-570_2912-568del
ENST00000684231.1:c.*556+406_*556+408del ENSP00000507748.1:n.*556+406_*556+408del
ENST00000684263.1:c.*86+406_*86+408del ENSP00000508369.1:n.*86+406_*86+408del
ENST00000684305.1:c.1594+406_1594+408del ENSP00000506819.1:n.1594+406_1594+408del
ENST00000684415.1:c.*14-570_*14-568del ENSP00000507227.1:n.*14-570_*14-568del
ENST00000684520.1:c.1146+406_1146+408del ENSP00000506826.1:n.1146+406_1146+408del
ENST00000684602.1:c.*812+406_*812+408del ENSP00000507996.1:n.*812+406_*812+408del
ENST00000684667.1:c.1477+406_1477+408del ENSP00000507003.1:n.1477+406_1477+408del
ENST00000268097.10:c.1146+406_1146+408del MANE Select ENSP00000268097.6:n.1146+406_1146+408del
ENST00000268097.9:c.1146+406_1146+408del ENSP00000268097.5:n.1146+406_1146+408del
ENST00000379915.4:c.413-955_413-953del ENSP00000478716.1:n.413-955_413-953del
ENST00000563762.5:c.825+768_825+770del ENSP00000456346.1:n.825+768_825+770del
ENST00000566304.5:c.1179+406_1179+408del ENSP00000455114.1:n.1179+406_1179+408del
ENST00000566672.5:c.*556+406_*556+408del ENSP00000457037.1:n.*556+406_*556+408del
ENST00000567027.5:c.945+768_945+770del
ENST00000567159.5:c.1146+406_1146+408del ENSP00000456489.1:n.1146+406_1146+408del
ENST00000567411.5:c.*667+406_*667+408del ENSP00000455545.1:n.*667+406_*667+408del
ENST00000568777.5:n.6550+406_6550+408del
ENST00000569410.5:c.1074-570_1074-568del ENSP00000457125.1:n.1074-570_1074-568del
NM_000520.4:c.1146+406_1146+408del NP_000511.2:n.1146+406_1146+408del
NM_000520.5:c.1146+406_1146+408del NP_000511.2:n.1146+406_1146+408del
NM_001318825.1:c.1179+406_1179+408del NP_001305754.1:n.1179+406_1179+408del
NR_134869.1:n.1574+768_1574+770del
NM_000520.6:c.1146+406_1146+408del MANE Select NP_000511.2:n.1146+406_1146+408del
NM_001318825.2:c.1179+406_1179+408del NP_001305754.1:n.1179+406_1179+408del
NR_134869.2:n.1115+768_1115+770del
NR_134869.3:n.1115+768_1115+770del