Canonical Allele Identifier: CA2186743233
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345400_72345401delinsTG , CM000677.2:g.72345400_72345401delinsTG GRCh38
NC_000015.9:g.72637741_72637742delinsTG , CM000677.1:g.72637741_72637742delinsTG GRCh37
NC_000015.8:g.70424795_70424796delinsTG NCBI36
NG_009017.1:g.35779_35780delinsCA
NG_009017.2:g.35779_35780delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*231_*232delinsCA ENSP00000457521.2:n.*231_*232delinsCA
ENST00000682061.1:c.*1917_*1918delinsCA ENSP00000508316.1:n.*1917_*1918delinsCA
ENST00000682064.1:n.1753+45_1753+46delinsCA
ENST00000682177.1:c.1614_1615delinsCA ENSP00000507409.1:n.1614_1615delinsCA
ENST00000682235.1:n.1549+45_1549+46delinsCA
ENST00000682461.1:c.1632+45_1632+46delinsCA ENSP00000507308.1:n.1632+45_1632+46delinsCA
ENST00000682653.1:n.2575_2576delinsCA
ENST00000682657.1:c.*1408_*1409delinsCA ENSP00000507753.1:n.*1408_*1409delinsCA
ENST00000682721.1:c.*1329+45_*1329+46delinsCA ENSP00000507535.1:n.*1329+45_*1329+46delinsCA
ENST00000682843.1:c.*1167+45_*1167+46delinsCA ENSP00000508173.1:n.*1167+45_*1167+46delinsCA
ENST00000683003.1:c.*1408_*1409delinsCA ENSP00000507576.1:n.*1408_*1409delinsCA
ENST00000683133.1:c.1710+45_1710+46delinsCA ENSP00000508108.1:n.1710+45_1710+46delinsCA
ENST00000683243.1:c.*679+45_*679+46delinsCA ENSP00000507042.1:n.*679+45_*679+46delinsCA
ENST00000683463.1:c.*1015+45_*1015+46delinsCA ENSP00000507986.1:n.*1015+45_*1015+46delinsCA
ENST00000683548.1:n.1984+45_1984+46delinsCA
ENST00000683579.1:c.*1424+45_*1424+46delinsCA ENSP00000506867.1:n.*1424+45_*1424+46delinsCA
ENST00000683587.1:n.2057+45_2057+46delinsCA
ENST00000683681.1:c.*204+45_*204+46delinsCA ENSP00000508110.1:n.*204+45_*204+46delinsCA
ENST00000683735.1:c.*1924+45_*1924+46delinsCA ENSP00000508336.1:n.*1924+45_*1924+46delinsCA
ENST00000683853.1:c.*376_*377delinsCA ENSP00000506834.1:n.*376_*377delinsCA
ENST00000683860.1:c.*646+45_*646+46delinsCA ENSP00000507179.1:n.*646+45_*646+46delinsCA
ENST00000683884.1:c.*898_*899delinsCA ENSP00000507004.1:n.*898_*899delinsCA
ENST00000684125.1:c.*186+45_*186+46delinsCA ENSP00000507320.1:n.*186+45_*186+46delinsCA
ENST00000684203.1:n.3975+45_3975+46delinsCA
ENST00000684231.1:c.*936+45_*936+46delinsCA ENSP00000507748.1:n.*936+45_*936+46delinsCA
ENST00000684263.1:c.*1150+45_*1150+46delinsCA ENSP00000508369.1:n.*1150+45_*1150+46delinsCA
ENST00000684305.1:c.1974+45_1974+46delinsCA ENSP00000506819.1:n.1974+45_1974+46delinsCA
ENST00000684415.1:c.*1122_*1123delinsCA ENSP00000507227.1:n.*1122_*1123delinsCA
ENST00000684520.1:c.*830_*831delinsCA ENSP00000506826.1:n.*830_*831delinsCA
ENST00000684602.1:c.*1192+45_*1192+46delinsCA ENSP00000507996.1:n.*1192+45_*1192+46delinsCA
ENST00000684667.1:c.1857+45_1857+46delinsCA ENSP00000507003.1:n.1857+45_1857+46delinsCA
ENST00000268097.10:c.1526+45_1526+46delinsCA MANE Select ENSP00000268097.6:n.1526+45_1526+46delinsCA
ENST00000268097.9:c.1526+45_1526+46delinsCA ENSP00000268097.5:n.1526+45_1526+46delinsCA
ENST00000379915.4:c.608+45_608+46delinsCA ENSP00000478716.1:n.608+45_608+46delinsCA
ENST00000564677.5:n.318+45_318+46delinsCA
ENST00000565873.1:n.437+45_437+46delinsCA
ENST00000566304.5:c.1559+45_1559+46delinsCA ENSP00000455114.1:n.1559+45_1559+46delinsCA
ENST00000567027.5:c.1186_1187delinsCA
ENST00000567411.5:c.*1047+45_*1047+46delinsCA ENSP00000455545.1:n.*1047+45_*1047+46delinsCA
ENST00000568777.5:n.6791_6792delinsCA
ENST00000569116.1:n.278_279delinsCA
NM_000520.4:c.1526+45_1526+46delinsCA NP_000511.2:n.1526+45_1526+46delinsCA
NM_000520.5:c.1526+45_1526+46delinsCA NP_000511.2:n.1526+45_1526+46delinsCA
NM_001318825.1:c.1559+45_1559+46delinsCA NP_001305754.1:n.1559+45_1559+46delinsCA
NR_134869.1:n.1815_1816delinsCA
NM_000520.6:c.1526+45_1526+46delinsCA MANE Select NP_000511.2:n.1526+45_1526+46delinsCA
NM_001318825.2:c.1559+45_1559+46delinsCA NP_001305754.1:n.1559+45_1559+46delinsCA
NR_134869.2:n.1356_1357delinsCA
NR_134869.3:n.1356_1357delinsCA