Canonical Allele Identifier: CA2186743204
Gene: HEXA HGNC NCBI

Linked Data

dbSNP Id: rs2088595799

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345345_72345348del , CM000677.2:g.72345345_72345348del GRCh38
NC_000015.9:g.72637686_72637689del , CM000677.1:g.72637686_72637689del GRCh37
NC_000015.8:g.70424740_70424743del NCBI36
NG_009017.1:g.35834_35837del
NG_009017.2:g.35834_35837del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*286_*289del ENSP00000457521.2:n.*286_*289del
ENST00000682061.1:c.*1972_*1975del ENSP00000508316.1:n.*1972_*1975del
ENST00000682064.1:n.1753+100_1753+103del
ENST00000682177.1:c.1669_1672del ENSP00000507409.1:n.1669_1672del
ENST00000682235.1:n.1549+100_1549+103del
ENST00000682461.1:c.1632+100_1632+103del ENSP00000507308.1:n.1632+100_1632+103del
ENST00000682653.1:n.2630_2633del
ENST00000682657.1:c.*1463_*1466del ENSP00000507753.1:n.*1463_*1466del
ENST00000682721.1:c.*1329+100_*1329+103del ENSP00000507535.1:n.*1329+100_*1329+103del
ENST00000682843.1:c.*1167+100_*1167+103del ENSP00000508173.1:n.*1167+100_*1167+103del
ENST00000683003.1:c.*1463_*1466del ENSP00000507576.1:n.*1463_*1466del
ENST00000683133.1:c.1710+100_1710+103del ENSP00000508108.1:n.1710+100_1710+103del
ENST00000683243.1:c.*679+100_*679+103del ENSP00000507042.1:n.*679+100_*679+103del
ENST00000683463.1:c.*1015+100_*1015+103del ENSP00000507986.1:n.*1015+100_*1015+103del
ENST00000683548.1:n.1984+100_1984+103del
ENST00000683579.1:c.*1424+100_*1424+103del ENSP00000506867.1:n.*1424+100_*1424+103del
ENST00000683587.1:n.2057+100_2057+103del
ENST00000683681.1:c.*204+100_*204+103del ENSP00000508110.1:n.*204+100_*204+103del
ENST00000683735.1:c.*1924+100_*1924+103del ENSP00000508336.1:n.*1924+100_*1924+103del
ENST00000683853.1:c.*431_*434del ENSP00000506834.1:n.*431_*434del
ENST00000683860.1:c.*646+100_*646+103del ENSP00000507179.1:n.*646+100_*646+103del
ENST00000683884.1:c.*953_*956del ENSP00000507004.1:n.*953_*956del
ENST00000684125.1:c.*186+100_*186+103del ENSP00000507320.1:n.*186+100_*186+103del
ENST00000684203.1:n.3975+100_3975+103del
ENST00000684231.1:c.*936+100_*936+103del ENSP00000507748.1:n.*936+100_*936+103del
ENST00000684263.1:c.*1150+100_*1150+103del ENSP00000508369.1:n.*1150+100_*1150+103del
ENST00000684305.1:c.1974+100_1974+103del ENSP00000506819.1:n.1974+100_1974+103del
ENST00000684415.1:c.*1177_*1180del ENSP00000507227.1:n.*1177_*1180del
ENST00000684520.1:c.*885_*888del ENSP00000506826.1:n.*885_*888del
ENST00000684602.1:c.*1192+100_*1192+103del ENSP00000507996.1:n.*1192+100_*1192+103del
ENST00000684667.1:c.1857+100_1857+103del ENSP00000507003.1:n.1857+100_1857+103del
ENST00000268097.10:c.1526+100_1526+103del MANE Select ENSP00000268097.6:n.1526+100_1526+103del
ENST00000268097.9:c.1526+100_1526+103del ENSP00000268097.5:n.1526+100_1526+103del
ENST00000379915.4:c.608+100_608+103del ENSP00000478716.1:n.608+100_608+103del
ENST00000564677.5:n.318+100_318+103del
ENST00000565873.1:n.437+100_437+103del
ENST00000566304.5:c.1559+100_1559+103del ENSP00000455114.1:n.1559+100_1559+103del
ENST00000567027.5:c.1241_1244del
ENST00000567411.5:c.*1047+100_*1047+103del ENSP00000455545.1:n.*1047+100_*1047+103del
ENST00000568777.5:n.6846_6849del
ENST00000569116.1:n.333_336del
NM_000520.4:c.1526+100_1526+103del NP_000511.2:n.1526+100_1526+103del
NM_000520.5:c.1526+100_1526+103del NP_000511.2:n.1526+100_1526+103del
NM_001318825.1:c.1559+100_1559+103del NP_001305754.1:n.1559+100_1559+103del
NR_134869.1:n.1870_1873del
NM_000520.6:c.1526+100_1526+103del MANE Select NP_000511.2:n.1526+100_1526+103del
NM_001318825.2:c.1559+100_1559+103del NP_001305754.1:n.1559+100_1559+103del
NR_134869.2:n.1411_1414del
NR_134869.3:n.1411_1414del