Canonical Allele Identifier: CA2186743228

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345390_72345391delinsTC , CM000677.2:g.72345390_72345391delinsTC	GRCh38
NC_000015.9:g.72637731_72637732delinsTC , CM000677.1:g.72637731_72637732delinsTC	GRCh37
NC_000015.8:g.70424785_70424786delinsTC	NCBI36
NG_009017.1:g.35789_35790delinsGA
NG_009017.2:g.35789_35790delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*241_*242delinsGA	ENSP00000457521.2:n.*241_*242delinsGA
ENST00000682061.1:c.*1927_*1928delinsGA	ENSP00000508316.1:n.*1927_*1928delinsGA
ENST00000682064.1:n.1753+55_1753+56delinsGA
ENST00000682177.1:c.1624_1625delinsGA	ENSP00000507409.1:n.1624_1625delinsGA
ENST00000682235.1:n.1549+55_1549+56delinsGA
ENST00000682461.1:c.1632+55_1632+56delinsGA	ENSP00000507308.1:n.1632+55_1632+56delins...
ENST00000682653.1:n.2585_2586delinsGA
ENST00000682657.1:c.*1418_*1419delinsGA	ENSP00000507753.1:n.*1418_*1419delinsGA
ENST00000682721.1:c.*1329+55_*1329+56delinsGA	ENSP00000507535.1:n.*1329+55_*1329+56deli...
ENST00000682843.1:c.*1167+55_*1167+56delinsGA	ENSP00000508173.1:n.*1167+55_*1167+56deli...
ENST00000683003.1:c.*1418_*1419delinsGA	ENSP00000507576.1:n.*1418_*1419delinsGA
ENST00000683133.1:c.1710+55_1710+56delinsGA	ENSP00000508108.1:n.1710+55_1710+56delins...
ENST00000683243.1:c.*679+55_*679+56delinsGA	ENSP00000507042.1:n.*679+55_*679+56delins...
ENST00000683463.1:c.*1015+55_*1015+56delinsGA	ENSP00000507986.1:n.*1015+55_*1015+56deli...
ENST00000683548.1:n.1984+55_1984+56delinsGA
ENST00000683579.1:c.*1424+55_*1424+56delinsGA	ENSP00000506867.1:n.*1424+55_*1424+56deli...
ENST00000683587.1:n.2057+55_2057+56delinsGA
ENST00000683681.1:c.*204+55_*204+56delinsGA	ENSP00000508110.1:n.*204+55_*204+56delins...
ENST00000683735.1:c.*1924+55_*1924+56delinsGA	ENSP00000508336.1:n.*1924+55_*1924+56deli...
ENST00000683853.1:c.*386_*387delinsGA	ENSP00000506834.1:n.*386_*387delinsGA
ENST00000683860.1:c.*646+55_*646+56delinsGA	ENSP00000507179.1:n.*646+55_*646+56delins...
ENST00000683884.1:c.*908_*909delinsGA	ENSP00000507004.1:n.*908_*909delinsGA
ENST00000684125.1:c.*186+55_*186+56delinsGA	ENSP00000507320.1:n.*186+55_*186+56delins...
ENST00000684203.1:n.3975+55_3975+56delinsGA
ENST00000684231.1:c.*936+55_*936+56delinsGA	ENSP00000507748.1:n.*936+55_*936+56delins...
ENST00000684263.1:c.*1150+55_*1150+56delinsGA	ENSP00000508369.1:n.*1150+55_*1150+56deli...
ENST00000684305.1:c.1974+55_1974+56delinsGA	ENSP00000506819.1:n.1974+55_1974+56delins...
ENST00000684415.1:c.*1132_*1133delinsGA	ENSP00000507227.1:n.*1132_*1133delinsGA
ENST00000684520.1:c.*840_*841delinsGA	ENSP00000506826.1:n.*840_*841delinsGA
ENST00000684602.1:c.*1192+55_*1192+56delinsGA	ENSP00000507996.1:n.*1192+55_*1192+56deli...
ENST00000684667.1:c.1857+55_1857+56delinsGA	ENSP00000507003.1:n.1857+55_1857+56delins...
ENST00000268097.10:c.1526+55_1526+56delinsGA MANE Select	ENSP00000268097.6:n.1526+55_1526+56delins...
ENST00000268097.9:c.1526+55_1526+56delinsGA	ENSP00000268097.5:n.1526+55_1526+56delins...
ENST00000379915.4:c.608+55_608+56delinsGA	ENSP00000478716.1:n.608+55_608+56delinsGA...
ENST00000564677.5:n.318+55_318+56delinsGA
ENST00000565873.1:n.437+55_437+56delinsGA
ENST00000566304.5:c.1559+55_1559+56delinsGA	ENSP00000455114.1:n.1559+55_1559+56delins...
ENST00000567027.5:c.1196_1197delinsGA
ENST00000567411.5:c.*1047+55_*1047+56delinsGA	ENSP00000455545.1:n.*1047+55_*1047+56deli...
ENST00000568777.5:n.6801_6802delinsGA
ENST00000569116.1:n.288_289delinsGA
NM_000520.4:c.1526+55_1526+56delinsGA	NP_000511.2:n.1526+55_1526+56delinsGA
NM_000520.5:c.1526+55_1526+56delinsGA	NP_000511.2:n.1526+55_1526+56delinsGA
NM_001318825.1:c.1559+55_1559+56delinsGA	NP_001305754.1:n.1559+55_1559+56delinsGA
NR_134869.1:n.1825_1826delinsGA
NM_000520.6:c.1526+55_1526+56delinsGA MANE Select	NP_000511.2:n.1526+55_1526+56delinsGA
NM_001318825.2:c.1559+55_1559+56delinsGA	NP_001305754.1:n.1559+55_1559+56delinsGA
NR_134869.2:n.1366_1367delinsGA
NR_134869.3:n.1366_1367delinsGA