Canonical Allele Identifier: CA2804699896
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345663dup , CM000677.2:g.72345663dup GRCh38
NC_000015.9:g.72638004dup , CM000677.1:g.72638004dup GRCh37
NC_000015.8:g.70425058dup NCBI36
NG_009017.1:g.35518dup
NG_009017.2:g.35518dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*82-112dup ENSP00000457521.2:n.*82-112dup
ENST00000682061.1:c.*1656dup ENSP00000508316.1:n.*1656dup
ENST00000682064.1:n.1537dup
ENST00000682177.1:c.1465-112dup ENSP00000507409.1:n.1465-112dup
ENST00000682235.1:n.1333dup
ENST00000682461.1:c.1528-112dup ENSP00000507308.1:n.1528-112dup
ENST00000682653.1:n.2314dup
ENST00000682657.1:c.*1147dup ENSP00000507753.1:n.*1147dup
ENST00000682721.1:c.*1225-112dup ENSP00000507535.1:n.*1225-112dup
ENST00000682843.1:c.*1063-112dup ENSP00000508173.1:n.*1063-112dup
ENST00000683003.1:c.*1147dup ENSP00000507576.1:n.*1147dup
ENST00000683133.1:c.1606-112dup ENSP00000508108.1:n.1606-112dup
ENST00000683243.1:c.*575-112dup ENSP00000507042.1:n.*575-112dup
ENST00000683463.1:c.*799dup ENSP00000507986.1:n.*799dup
ENST00000683548.1:n.1768dup
ENST00000683579.1:c.*1320-112dup ENSP00000506867.1:n.*1320-112dup
ENST00000683587.1:n.1841dup
ENST00000683681.1:c.*99+15dup ENSP00000508110.1:n.*99+15dup
ENST00000683735.1:c.*1708dup ENSP00000508336.1:n.*1708dup
ENST00000683853.1:c.*227-112dup ENSP00000506834.1:n.*227-112dup
ENST00000683860.1:c.*430dup ENSP00000507179.1:n.*430dup
ENST00000683884.1:c.*637dup ENSP00000507004.1:n.*637dup
ENST00000684041.1:c.*554+15dup ENSP00000508382.1:n.*554+15dup
ENST00000684125.1:c.*82-112dup ENSP00000507320.1:n.*82-112dup
ENST00000684203.1:n.3759dup
ENST00000684231.1:c.*832-112dup ENSP00000507748.1:n.*832-112dup
ENST00000684263.1:c.*934dup ENSP00000508369.1:n.*934dup
ENST00000684305.1:c.1870-112dup ENSP00000506819.1:n.1870-112dup
ENST00000684415.1:c.*861dup ENSP00000507227.1:n.*861dup
ENST00000684520.1:c.*569dup ENSP00000506826.1:n.*569dup
ENST00000684602.1:c.*1088-112dup ENSP00000507996.1:n.*1088-112dup
ENST00000684667.1:c.1753-112dup ENSP00000507003.1:n.1753-112dup
ENST00000268097.10:c.1422-112dup MANE Select ENSP00000268097.6:n.1422-112dup
ENST00000268097.9:c.1422-112dup ENSP00000268097.5:n.1422-112dup
ENST00000379915.4:c.504-112dup ENSP00000478716.1:n.504-112dup
ENST00000564677.5:n.213+15dup
ENST00000565873.1:n.221dup
ENST00000566304.5:c.1455-112dup ENSP00000455114.1:n.1455-112dup
ENST00000567027.5:c.1037-112dup
ENST00000567159.5:c.1422-112dup ENSP00000456489.1:n.1422-112dup
ENST00000567411.5:c.*943-112dup ENSP00000455545.1:n.*943-112dup
ENST00000568777.5:n.6642-112dup
ENST00000569116.1:n.128+15dup
NM_000520.4:c.1422-112dup NP_000511.2:n.1422-112dup
NM_000520.5:c.1422-112dup NP_000511.2:n.1422-112dup
NM_001318825.1:c.1455-112dup NP_001305754.1:n.1455-112dup
NR_134869.1:n.1666-112dup
NM_000520.6:c.1422-112dup MANE Select NP_000511.2:n.1422-112dup
NM_001318825.2:c.1455-112dup NP_001305754.1:n.1455-112dup
NR_134869.2:n.1207-112dup
NR_134869.3:n.1207-112dup