Canonical Allele Identifier: CA2804699966
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346616dup , CM000677.2:g.72346616dup GRCh38
NC_000015.9:g.72638957dup , CM000677.1:g.72638957dup GRCh37
NC_000015.8:g.70426011dup NCBI36
NG_009017.1:g.34566dup
NG_009017.2:g.34566dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-289dup ENSP00000457521.2:n.1074-289dup
ENST00000682061.1:c.*905dup ENSP00000508316.1:n.*905dup
ENST00000682064.1:n.585dup
ENST00000682177.1:c.1286dup ENSP00000507409.1:n.1286dup
ENST00000682235.1:n.582dup
ENST00000682461.1:c.1349dup ENSP00000507308.1:n.1349dup
ENST00000682653.1:n.1563dup
ENST00000682657.1:c.*484-289dup ENSP00000507753.1:n.*484-289dup
ENST00000682721.1:c.*1046dup ENSP00000507535.1:n.*1046dup
ENST00000682843.1:c.*972-289dup ENSP00000508173.1:n.*972-289dup
ENST00000683003.1:c.*484-289dup ENSP00000507576.1:n.*484-289dup
ENST00000683133.1:c.1427dup ENSP00000508108.1:n.1427dup
ENST00000683243.1:c.*484-289dup ENSP00000507042.1:n.*484-289dup
ENST00000683463.1:c.*48dup ENSP00000507986.1:n.*48dup
ENST00000683548.1:n.1105-289dup
ENST00000683579.1:c.*1141dup ENSP00000506867.1:n.*1141dup
ENST00000683587.1:n.1178-289dup
ENST00000683681.1:c.1243dup ENSP00000508110.1:p.Leu415ProfsTer16
ENST00000683735.1:c.*1045-289dup ENSP00000508336.1:n.*1045-289dup
ENST00000683853.1:c.*48dup ENSP00000506834.1:n.*48dup
ENST00000683860.1:c.1243dup ENSP00000507179.1:p.Leu415ProfsTer16
ENST00000683884.1:c.1147-289dup ENSP00000507004.1:n.1147-289dup
ENST00000684041.1:c.1243dup ENSP00000508382.1:p.Leu415ProfsTer16
ENST00000684125.1:c.1074-289dup ENSP00000507320.1:n.1074-289dup
ENST00000684203.1:n.3008dup
ENST00000684231.1:c.*653dup ENSP00000507748.1:n.*653dup
ENST00000684263.1:c.*183dup ENSP00000508369.1:n.*183dup
ENST00000684305.1:c.1691dup ENSP00000506819.1:n.1691dup
ENST00000684415.1:c.*110dup ENSP00000507227.1:n.*110dup
ENST00000684520.1:c.1243dup ENSP00000506826.1:p.Leu415ProfsTer16
ENST00000684602.1:c.*909dup ENSP00000507996.1:n.*909dup
ENST00000684667.1:c.1574dup ENSP00000507003.1:n.1574dup
ENST00000268097.10:c.1243dup MANE Select ENSP00000268097.6:p.Leu415ProfsTer16
ENST00000268097.9:c.1243dup ENSP00000268097.5:p.Leu415ProfsTer16
ENST00000379915.4:c.413-289dup ENSP00000478716.1:n.413-289dup
ENST00000563762.5:c.826-289dup ENSP00000456346.1:n.826-289dup
ENST00000566304.5:c.1276dup ENSP00000455114.1:p.Leu426ProfsTer16
ENST00000566672.5:c.*653dup ENSP00000457037.1:n.*653dup
ENST00000567027.5:c.946-289dup
ENST00000567159.5:c.1243dup ENSP00000456489.1:p.Leu415ProfsTer16
ENST00000567411.5:c.*764dup ENSP00000455545.1:n.*764dup
ENST00000568777.5:n.6551-289dup
ENST00000569410.5:c.*48dup ENSP00000457125.1:n.*48dup
NM_000520.4:c.1243dup NP_000511.2:p.Leu415ProfsTer16
NM_000520.5:c.1243dup NP_000511.2:p.Leu415ProfsTer16
NM_001318825.1:c.1276dup NP_001305754.1:p.Leu426ProfsTer16
NR_134869.1:n.1575-289dup
NM_000520.6:c.1243dup MANE Select NP_000511.2:p.Leu415ProfsTer16
NM_001318825.2:c.1276dup NP_001305754.1:p.Leu426ProfsTer16
NR_134869.2:n.1116-289dup
NR_134869.3:n.1116-289dup