Canonical Allele Identifier: CA2186743165
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345282_72345283delinsTC , CM000677.2:g.72345282_72345283delinsTC GRCh38
NC_000015.9:g.72637623_72637624delinsTC , CM000677.1:g.72637623_72637624delinsTC GRCh37
NC_000015.8:g.70424677_70424678delinsTC NCBI36
NG_009017.1:g.35897_35898delinsGA
NG_009017.2:g.35897_35898delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*349_*350delinsGA ENSP00000457521.2:n.*349_*350delinsGA
ENST00000682061.1:c.*2035_*2036delinsGA ENSP00000508316.1:n.*2035_*2036delinsGA
ENST00000682064.1:n.1753+163_1753+164delinsGA
ENST00000682177.1:c.1732_1733delinsGA ENSP00000507409.1:n.1732_1733delinsGA
ENST00000682235.1:n.1549+163_1549+164delinsGA
ENST00000682461.1:c.1632+163_1632+164delinsGA ENSP00000507308.1:n.1632+163_1632+164delinsGA
ENST00000682653.1:n.2693_2694delinsGA
ENST00000682657.1:c.*1526_*1527delinsGA ENSP00000507753.1:n.*1526_*1527delinsGA
ENST00000682721.1:c.*1329+163_*1329+164delinsGA ENSP00000507535.1:n.*1329+163_*1329+164delinsGA
ENST00000682843.1:c.*1167+163_*1167+164delinsGA ENSP00000508173.1:n.*1167+163_*1167+164delinsGA
ENST00000683133.1:c.1710+163_1710+164delinsGA ENSP00000508108.1:n.1710+163_1710+164delinsGA
ENST00000683243.1:c.*679+163_*679+164delinsGA ENSP00000507042.1:n.*679+163_*679+164delinsGA
ENST00000683463.1:c.*1015+163_*1015+164delinsGA ENSP00000507986.1:n.*1015+163_*1015+164delinsGA
ENST00000683548.1:n.1984+163_1984+164delinsGA
ENST00000683579.1:c.*1424+163_*1424+164delinsGA ENSP00000506867.1:n.*1424+163_*1424+164delinsGA
ENST00000683587.1:n.2057+163_2057+164delinsGA
ENST00000683681.1:c.*204+163_*204+164delinsGA ENSP00000508110.1:n.*204+163_*204+164delinsGA
ENST00000683735.1:c.*1924+163_*1924+164delinsGA ENSP00000508336.1:n.*1924+163_*1924+164delinsGA
ENST00000683853.1:c.*494_*495delinsGA ENSP00000506834.1:n.*494_*495delinsGA
ENST00000683860.1:c.*646+163_*646+164delinsGA ENSP00000507179.1:n.*646+163_*646+164delinsGA
ENST00000683884.1:c.*1016_*1017delinsGA ENSP00000507004.1:n.*1016_*1017delinsGA
ENST00000684125.1:c.*186+163_*186+164delinsGA ENSP00000507320.1:n.*186+163_*186+164delinsGA
ENST00000684203.1:n.3975+163_3975+164delinsGA
ENST00000684231.1:c.*936+163_*936+164delinsGA ENSP00000507748.1:n.*936+163_*936+164delinsGA
ENST00000684263.1:c.*1150+163_*1150+164delinsGA ENSP00000508369.1:n.*1150+163_*1150+164delinsGA
ENST00000684305.1:c.1974+163_1974+164delinsGA ENSP00000506819.1:n.1974+163_1974+164delinsGA
ENST00000684415.1:c.*1240_*1241delinsGA ENSP00000507227.1:n.*1240_*1241delinsGA
ENST00000684520.1:c.*948_*949delinsGA ENSP00000506826.1:n.*948_*949delinsGA
ENST00000684602.1:c.*1192+163_*1192+164delinsGA ENSP00000507996.1:n.*1192+163_*1192+164delinsGA
ENST00000684667.1:c.1857+163_1857+164delinsGA ENSP00000507003.1:n.1857+163_1857+164delinsGA
ENST00000268097.10:c.1526+163_1526+164delinsGA MANE Select ENSP00000268097.6:n.1526+163_1526+164delinsGA
ENST00000268097.9:c.1526+163_1526+164delinsGA ENSP00000268097.5:n.1526+163_1526+164delinsGA
ENST00000379915.4:c.608+163_608+164delinsGA ENSP00000478716.1:n.608+163_608+164delinsGA
ENST00000564677.5:n.318+163_318+164delinsGA
ENST00000565873.1:n.437+163_437+164delinsGA
ENST00000566304.5:c.1559+163_1559+164delinsGA ENSP00000455114.1:n.1559+163_1559+164delinsGA
ENST00000567027.5:c.1304_1305delinsGA
ENST00000567411.5:c.*1047+163_*1047+164delinsGA ENSP00000455545.1:n.*1047+163_*1047+164delinsGA
ENST00000569116.1:n.396_397delinsGA
NM_000520.4:c.1526+163_1526+164delinsGA NP_000511.2:n.1526+163_1526+164delinsGA
NM_000520.5:c.1526+163_1526+164delinsGA NP_000511.2:n.1526+163_1526+164delinsGA
NM_001318825.1:c.1559+163_1559+164delinsGA NP_001305754.1:n.1559+163_1559+164delinsGA
NR_134869.1:n.1933_1934delinsGA
NM_000520.6:c.1526+163_1526+164delinsGA MANE Select NP_000511.2:n.1526+163_1526+164delinsGA
NM_001318825.2:c.1559+163_1559+164delinsGA NP_001305754.1:n.1559+163_1559+164delinsGA
NR_134869.2:n.1474_1475delinsGA
NR_134869.3:n.1474_1475delinsGA