Canonical Allele Identifier: CA2695220952
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72350529_72350530dup , CM000677.2:g.72350529_72350530dup GRCh38
NC_000015.9:g.72642870_72642871dup , CM000677.1:g.72642870_72642871dup GRCh37
NC_000015.8:g.70429924_70429925dup NCBI36
NG_009017.1:g.30650_30651dup
NG_009017.2:g.30650_30651dup

Transcript Alleles

HGVS Amino-acid change
ENST00000563908.2:n.3139_3140dup
ENST00000567027.6:c.793_794dup ENSP00000457521.2:p.Trp266ProfsTer10
ENST00000682061.1:c.*455_*456dup ENSP00000508316.1:n.*455_*456dup
ENST00000682177.1:c.836_837dup ENSP00000507409.1:n.836_837dup
ENST00000682461.1:c.899_900dup ENSP00000507308.1:n.899_900dup
ENST00000682653.1:n.824_825dup
ENST00000682657.1:c.*203_*204dup ENSP00000507753.1:n.*203_*204dup
ENST00000682721.1:c.*596_*597dup ENSP00000507535.1:n.*596_*597dup
ENST00000682843.1:c.*691_*692dup ENSP00000508173.1:n.*691_*692dup
ENST00000683003.1:c.*203_*204dup ENSP00000507576.1:n.*203_*204dup
ENST00000683133.1:c.977_978dup ENSP00000508108.1:n.977_978dup
ENST00000683228.1:n.824_825dup
ENST00000683243.1:c.*203_*204dup ENSP00000507042.1:n.*203_*204dup
ENST00000683463.1:c.793_794dup ENSP00000507986.1:p.Trp266ProfsTer10
ENST00000683548.1:n.824_825dup
ENST00000683579.1:c.*691_*692dup ENSP00000506867.1:n.*691_*692dup
ENST00000683587.1:n.824_825dup
ENST00000683681.1:c.793_794dup ENSP00000508110.1:p.Trp266ProfsTer10
ENST00000683735.1:c.*691_*692dup ENSP00000508336.1:n.*691_*692dup
ENST00000683742.1:n.624_625dup
ENST00000683853.1:c.793_794dup ENSP00000506834.1:p.Trp266ProfsTer10
ENST00000683860.1:c.793_794dup ENSP00000507179.1:p.Trp266ProfsTer10
ENST00000683884.1:c.793_794dup ENSP00000507004.1:p.Trp266ProfsTer10
ENST00000684041.1:c.793_794dup ENSP00000508382.1:p.Trp266ProfsTer10
ENST00000684125.1:c.793_794dup ENSP00000507320.1:p.Trp266ProfsTer10
ENST00000684203.1:n.2631_2632dup
ENST00000684231.1:c.*203_*204dup ENSP00000507748.1:n.*203_*204dup
ENST00000684263.1:c.793_794dup ENSP00000508369.1:p.Trp266ProfsTer10
ENST00000684305.1:c.1241_1242dup ENSP00000506819.1:n.1241_1242dup
ENST00000684415.1:c.793_794dup ENSP00000507227.1:p.Trp266ProfsTer10
ENST00000684520.1:c.793_794dup ENSP00000506826.1:p.Trp266ProfsTer10
ENST00000684602.1:c.*459_*460dup ENSP00000507996.1:n.*459_*460dup
ENST00000684667.1:c.1124_1125dup ENSP00000507003.1:n.1124_1125dup
ENST00000268097.10:c.793_794dup MANE Select ENSP00000268097.6:p.Trp266ProfsTer10
ENST00000268097.9:c.793_794dup ENSP00000268097.5:p.Trp266ProfsTer10
ENST00000379915.4:c.413-4205_413-4204dup ENSP00000478716.1:n.413-4205_413-4204dup
ENST00000563762.5:c.726_727dup ENSP00000456346.1:n.726_727dup
ENST00000566304.5:c.826_827dup ENSP00000455114.1:p.Trp277ProfsTer10
ENST00000566672.5:c.*203_*204dup ENSP00000457037.1:n.*203_*204dup
ENST00000567027.5:c.665_666dup
ENST00000567159.5:c.793_794dup ENSP00000456489.1:p.Trp266ProfsTer10
ENST00000567411.5:c.*314_*315dup ENSP00000455545.1:n.*314_*315dup
ENST00000568777.5:n.6197_6198dup
ENST00000569410.5:c.793_794dup ENSP00000457125.1:p.Trp266ProfsTer10
NM_000520.4:c.793_794dup NP_000511.2:p.Trp266ProfsTer10
NM_000520.5:c.793_794dup NP_000511.2:p.Trp266ProfsTer10
NM_001318825.1:c.826_827dup NP_001305754.1:p.Trp277ProfsTer10
NR_134869.1:n.1294_1295dup
NM_000520.6:c.793_794dup MANE Select NP_000511.2:p.Trp266ProfsTer10
NM_001318825.2:c.826_827dup NP_001305754.1:p.Trp277ProfsTer10
NR_134869.2:n.835_836dup
NR_134869.3:n.835_836dup