Canonical Allele Identifier: CA252911
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72349153_72349155del , CM000677.2:g.72349153_72349155del GRCh38
NC_000015.9:g.72641494_72641496del , CM000677.1:g.72641494_72641496del GRCh37
NC_000015.8:g.70428548_70428550del NCBI36
NG_009017.1:g.32030_32032del
NG_009017.2:g.32030_32032del

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.915_917del MANE Select NP_000511.2:p.Phe305del
ENST00000268097.10:c.915_917del MANE Select ENSP00000268097.6:p.Phe305del
NM_000520.4:c.915_917del NP_000511.2:p.Phe305del
NM_000520.5:c.915_917del NP_000511.2:p.Phe305del
NM_001318825.1:c.948_950del NP_001305754.1:p.Phe316del
NM_001318825.2:c.948_950del NP_001305754.1:p.Phe316del
NR_134869.1:n.1416_1418del
NR_134869.2:n.957_959del
NR_134869.3:n.957_959del
ENST00000268097.9:c.915_917del ENSP00000268097.5:p.Phe305del
ENST00000379915.4:c.413-2825_413-2823del ENSP00000478716.1:n.413-2825_413-2823del
ENST00000563762.5:c.739-1016_739-1014del ENSP00000456346.1:n.739-1016_739-1014del
ENST00000563908.2:n.3261_3263del
ENST00000566304.5:c.948_950del ENSP00000455114.1:p.Phe316del
ENST00000566672.5:c.*325_*327del ENSP00000457037.1:n.*325_*327del
ENST00000567027.5:c.787_789del
ENST00000567027.6:c.915_917del ENSP00000457521.2:p.Phe305del
ENST00000567159.5:c.915_917del ENSP00000456489.1:p.Phe305del
ENST00000567411.5:c.*436_*438del ENSP00000455545.1:n.*436_*438del
ENST00000568777.5:n.6319_6321del
ENST00000569410.5:c.915_917del ENSP00000457125.1:p.Phe305del
ENST00000682061.1:c.*577_*579del ENSP00000508316.1:n.*577_*579del
ENST00000682177.1:c.958_960del ENSP00000507409.1:n.958_960del
ENST00000682461.1:c.1021_1023del ENSP00000507308.1:n.1021_1023del
ENST00000682653.1:n.946_948del
ENST00000682657.1:c.*325_*327del ENSP00000507753.1:n.*325_*327del
ENST00000682721.1:c.*718_*720del ENSP00000507535.1:n.*718_*720del
ENST00000682843.1:c.*813_*815del ENSP00000508173.1:n.*813_*815del
ENST00000683003.1:c.*325_*327del ENSP00000507576.1:n.*325_*327del
ENST00000683133.1:c.1099_1101del ENSP00000508108.1:n.1099_1101del
ENST00000683228.1:n.946_948del
ENST00000683243.1:c.*325_*327del ENSP00000507042.1:n.*325_*327del
ENST00000683463.1:c.915_917del ENSP00000507986.1:p.Phe305del
ENST00000683548.1:n.946_948del
ENST00000683579.1:c.*813_*815del ENSP00000506867.1:n.*813_*815del
ENST00000683587.1:n.946_948del
ENST00000683681.1:c.915_917del ENSP00000508110.1:p.Phe305del
ENST00000683735.1:c.*813_*815del ENSP00000508336.1:n.*813_*815del
ENST00000683742.1:n.746_748del
ENST00000683853.1:c.915_917del ENSP00000506834.1:p.Phe305del
ENST00000683860.1:c.915_917del ENSP00000507179.1:p.Phe305del
ENST00000683884.1:c.915_917del ENSP00000507004.1:p.Phe305del
ENST00000684041.1:c.915_917del ENSP00000508382.1:p.Phe305del
ENST00000684125.1:c.915_917del ENSP00000507320.1:p.Phe305del
ENST00000684203.1:n.2753_2755del
ENST00000684231.1:c.*325_*327del ENSP00000507748.1:n.*325_*327del
ENST00000684263.1:c.915_917del ENSP00000508369.1:p.Phe305del
ENST00000684305.1:c.1363_1365del ENSP00000506819.1:n.1363_1365del
ENST00000684415.1:c.915_917del ENSP00000507227.1:p.Phe305del
ENST00000684520.1:c.915_917del ENSP00000506826.1:p.Phe305del
ENST00000684602.1:c.*581_*583del ENSP00000507996.1:n.*581_*583del
ENST00000684667.1:c.1246_1248del ENSP00000507003.1:n.1246_1248del