Canonical Allele Identifier: CA2186744408
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72348030_72348036delinsCCCTCCT , CM000677.2:g.72348030_72348036delinsCCCTCCT GRCh38
NC_000015.9:g.72640371_72640377delinsCCCTCCT , CM000677.1:g.72640371_72640377delinsCCCTCCT GRCh37
NC_000015.8:g.70427425_70427431delinsCCCTCCT NCBI36
NG_009017.1:g.33144_33150delinsAGGAGGG
NG_009017.2:g.33144_33150delinsAGGAGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000563908.2:n.3431_3437delinsAGGAGGG
ENST00000567027.6:c.1073+12_1073+18delinsAGGAGGG ENSP00000457521.2:n.1073+12_1073+18delins...
ENST00000682061.1:c.*735+12_*735+18delinsAGGAGGG ENSP00000508316.1:n.*735+12_*735+18delins...
ENST00000682177.1:c.1116+12_1116+18delinsAGGAGGG ENSP00000507409.1:n.1116+12_1116+18delins...
ENST00000682461.1:c.1179+12_1179+18delinsAGGAGGG ENSP00000507308.1:n.1179+12_1179+18delins...
ENST00000682653.1:n.1116_1122delinsAGGAGGG
ENST00000682657.1:c.*483+12_*483+18delinsAGGAGGG ENSP00000507753.1:n.*483+12_*483+18delins...
ENST00000682721.1:c.*876+12_*876+18delinsAGGAGGG ENSP00000507535.1:n.*876+12_*876+18delins...
ENST00000682843.1:c.*971+12_*971+18delinsAGGAGGG ENSP00000508173.1:n.*971+12_*971+18delins...
ENST00000683003.1:c.*483+12_*483+18delinsAGGAGGG ENSP00000507576.1:n.*483+12_*483+18delins...
ENST00000683133.1:c.1257+12_1257+18delinsAGGAGGG ENSP00000508108.1:n.1257+12_1257+18delins...
ENST00000683228.1:n.1104+12_1104+18delinsAGGAGGG
ENST00000683243.1:c.*483+12_*483+18delinsAGGAGGG ENSP00000507042.1:n.*483+12_*483+18delins...
ENST00000683463.1:c.1073+12_1073+18delinsAGGAGGG ENSP00000507986.1:n.1073+12_1073+18delins...
ENST00000683548.1:n.1104+12_1104+18delinsAGGAGGG
ENST00000683579.1:c.*971+12_*971+18delinsAGGAGGG ENSP00000506867.1:n.*971+12_*971+18delins...
ENST00000683587.1:n.1104+12_1104+18delinsAGGAGGG
ENST00000683681.1:c.1073+12_1073+18delinsAGGAGGG ENSP00000508110.1:n.1073+12_1073+18delins...
ENST00000683735.1:c.*971+12_*971+18delinsAGGAGGG ENSP00000508336.1:n.*971+12_*971+18delins...
ENST00000683742.1:n.904+12_904+18delinsAGGAGGG
ENST00000683853.1:c.1073+12_1073+18delinsAGGAGGG ENSP00000506834.1:n.1073+12_1073+18delins...
ENST00000683860.1:c.1073+12_1073+18delinsAGGAGGG ENSP00000507179.1:n.1073+12_1073+18delins...
ENST00000683884.1:c.1073+12_1073+18delinsAGGAGGG ENSP00000507004.1:n.1073+12_1073+18delins...
ENST00000684041.1:c.1073+12_1073+18delinsAGGAGGG ENSP00000508382.1:n.1073+12_1073+18delins...
ENST00000684125.1:c.1073+12_1073+18delinsAGGAGGG ENSP00000507320.1:n.1073+12_1073+18delins...
ENST00000684203.1:n.2911+12_2911+18delinsAGGAGGG
ENST00000684231.1:c.*483+12_*483+18delinsAGGAGGG ENSP00000507748.1:n.*483+12_*483+18delins...
ENST00000684263.1:c.*8_*13+1delinsAGGAGGG
ENST00000684305.1:c.1521+12_1521+18delinsAGGAGGG ENSP00000506819.1:n.1521+12_1521+18delins...
ENST00000684415.1:c.*8_*13+1delinsAGGAGGG
ENST00000684520.1:c.1073+12_1073+18delinsAGGAGGG ENSP00000506826.1:n.1073+12_1073+18delins...
ENST00000684602.1:c.*739+12_*739+18delinsAGGAGGG ENSP00000507996.1:n.*739+12_*739+18delins...
ENST00000684667.1:c.1404+12_1404+18delinsAGGAGGG ENSP00000507003.1:n.1404+12_1404+18delins...
ENST00000268097.10:c.1073+12_1073+18delinsAGGAGGG MANE Select ENSP00000268097.6:n.1073+12_1073+18delins...
ENST00000268097.9:c.1073+12_1073+18delinsAGGAGGG ENSP00000268097.5:n.1073+12_1073+18delins...
ENST00000379915.4:c.413-1711_413-1705delinsAGGAGGG ENSP00000478716.1:n.413-1711_413-1705deli...
ENST00000563762.5:c.825+12_825+18delinsAGGAGGG ENSP00000456346.1:n.825+12_825+18delinsAG...
ENST00000566304.5:c.1106+12_1106+18delinsAGGAGGG ENSP00000455114.1:n.1106+12_1106+18delins...
ENST00000566672.5:c.*483+12_*483+18delinsAGGAGGG ENSP00000457037.1:n.*483+12_*483+18delins...
ENST00000567027.5:c.945+12_945+18delinsAGGAGGG
ENST00000567159.5:c.1073+12_1073+18delinsAGGAGGG ENSP00000456489.1:n.1073+12_1073+18delins...
ENST00000567411.5:c.*594+12_*594+18delinsAGGAGGG ENSP00000455545.1:n.*594+12_*594+18delins...
ENST00000568777.5:n.6477+12_6477+18delinsAGGAGGG
ENST00000569410.5:c.1073+12_1073+18delinsAGGAGGG ENSP00000457125.1:n.1073+12_1073+18delins...
NM_000520.4:c.1073+12_1073+18delinsAGGAGGG NP_000511.2:n.1073+12_1073+18delinsAGGAGG...
NM_000520.5:c.1073+12_1073+18delinsAGGAGGG NP_000511.2:n.1073+12_1073+18delinsAGGAGG...
NM_001318825.1:c.1106+12_1106+18delinsAGGAGGG NP_001305754.1:n.1106+12_1106+18delinsAGG...
NR_134869.1:n.1574+12_1574+18delinsAGGAGGG
NM_000520.6:c.1073+12_1073+18delinsAGGAGGG MANE Select NP_000511.2:n.1073+12_1073+18delinsAGGAGG...
NM_001318825.2:c.1106+12_1106+18delinsAGGAGGG NP_001305754.1:n.1106+12_1106+18delinsAGG...
NR_134869.2:n.1115+12_1115+18delinsAGGAGGG
NR_134869.3:n.1115+12_1115+18delinsAGGAGGG