Canonical Allele Identifier: CA2839259145
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345459dup , CM000677.2:g.72345459dup GRCh38
NC_000015.9:g.72637800dup , CM000677.1:g.72637800dup GRCh37
NC_000015.8:g.70424854dup NCBI36
NG_009017.1:g.35721dup
NG_009017.2:g.35721dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*173dup ENSP00000457521.2:n.*173dup
ENST00000682061.1:c.*1859dup ENSP00000508316.1:n.*1859dup
ENST00000682064.1:n.1740dup
ENST00000682177.1:c.1556dup ENSP00000507409.1:n.1556dup
ENST00000682235.1:n.1536dup
ENST00000682461.1:c.1619dup ENSP00000507308.1:n.1619dup
ENST00000682653.1:n.2517dup
ENST00000682657.1:c.*1350dup ENSP00000507753.1:n.*1350dup
ENST00000682721.1:c.*1316dup ENSP00000507535.1:n.*1316dup
ENST00000682843.1:c.*1154dup ENSP00000508173.1:n.*1154dup
ENST00000683003.1:c.*1350dup ENSP00000507576.1:n.*1350dup
ENST00000683133.1:c.1697dup ENSP00000508108.1:n.1697dup
ENST00000683243.1:c.*666dup ENSP00000507042.1:n.*666dup
ENST00000683463.1:c.*1002dup ENSP00000507986.1:n.*1002dup
ENST00000683548.1:n.1971dup
ENST00000683579.1:c.*1411dup ENSP00000506867.1:n.*1411dup
ENST00000683587.1:n.2044dup
ENST00000683681.1:c.*191dup ENSP00000508110.1:n.*191dup
ENST00000683735.1:c.*1911dup ENSP00000508336.1:n.*1911dup
ENST00000683853.1:c.*318dup ENSP00000506834.1:n.*318dup
ENST00000683860.1:c.*633dup ENSP00000507179.1:n.*633dup
ENST00000683884.1:c.*840dup ENSP00000507004.1:n.*840dup
ENST00000684125.1:c.*173dup ENSP00000507320.1:n.*173dup
ENST00000684203.1:n.3962dup
ENST00000684231.1:c.*923dup ENSP00000507748.1:n.*923dup
ENST00000684263.1:c.*1137dup ENSP00000508369.1:n.*1137dup
ENST00000684305.1:c.1961dup ENSP00000506819.1:n.1961dup
ENST00000684415.1:c.*1064dup ENSP00000507227.1:n.*1064dup
ENST00000684520.1:c.*772dup ENSP00000506826.1:n.*772dup
ENST00000684602.1:c.*1179dup ENSP00000507996.1:n.*1179dup
ENST00000684667.1:c.1844dup ENSP00000507003.1:n.1844dup
ENST00000268097.10:c.1513dup MANE Select ENSP00000268097.6:p.Cys505LeufsTer2
ENST00000268097.9:c.1513dup ENSP00000268097.5:p.Cys505LeufsTer2
ENST00000379915.4:c.595dup ENSP00000478716.1:p.Cys199LeufsTer2
ENST00000564677.5:n.305dup
ENST00000565873.1:n.424dup
ENST00000566304.5:c.1546dup ENSP00000455114.1:p.Cys516LeufsTer2
ENST00000567027.5:c.1128dup
ENST00000567159.5:c.1513dup ENSP00000456489.1:p.Cys505LeufsTer2
ENST00000567411.5:c.*1034dup ENSP00000455545.1:n.*1034dup
ENST00000568777.5:n.6733dup
ENST00000569116.1:n.220dup
NM_000520.4:c.1513dup NP_000511.2:p.Cys505LeufsTer2
NM_000520.5:c.1513dup NP_000511.2:p.Cys505LeufsTer2
NM_001318825.1:c.1546dup NP_001305754.1:p.Cys516LeufsTer2
NR_134869.1:n.1757dup
NM_000520.6:c.1513dup MANE Select NP_000511.2:p.Cys505LeufsTer2
NM_001318825.2:c.1546dup NP_001305754.1:p.Cys516LeufsTer2
NR_134869.2:n.1298dup
NR_134869.3:n.1298dup