Canonical Allele Identifier: CA2186743151

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345260_72345261delinsAT , CM000677.2:g.72345260_72345261delinsAT	GRCh38
NC_000015.9:g.72637601_72637602delinsAT , CM000677.1:g.72637601_72637602delinsAT	GRCh37
NC_000015.8:g.70424655_70424656delinsAT	NCBI36
NG_009017.1:g.35919_35920delinsAT
NG_009017.2:g.35919_35920delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*371_*372delinsAT	ENSP00000457521.2:n.*371_*372delinsAT
ENST00000682061.1:c.*2057_*2058delinsAT	ENSP00000508316.1:n.*2057_*2058delinsAT
ENST00000682064.1:n.1753+185_1753+186delinsAT
ENST00000682235.1:n.1549+185_1549+186delinsAT
ENST00000682461.1:c.1632+185_1632+186delinsAT	ENSP00000507308.1:n.1632+185_1632+186delinsAT
ENST00000682653.1:n.2715_2716delinsAT
ENST00000682657.1:c.*1548_*1549delinsAT	ENSP00000507753.1:n.*1548_*1549delinsAT
ENST00000682721.1:c.*1329+185_*1329+186delinsAT	ENSP00000507535.1:n.*1329+185_*1329+186delinsAT
ENST00000682843.1:c.*1167+185_*1167+186delinsAT	ENSP00000508173.1:n.*1167+185_*1167+186delinsAT
ENST00000683133.1:c.1710+185_1710+186delinsAT	ENSP00000508108.1:n.1710+185_1710+186delinsAT
ENST00000683243.1:c.*679+185_*679+186delinsAT	ENSP00000507042.1:n.*679+185_*679+186delinsAT
ENST00000683463.1:c.*1015+185_*1015+186delinsAT	ENSP00000507986.1:n.*1015+185_*1015+186delinsAT
ENST00000683548.1:n.1984+185_1984+186delinsAT
ENST00000683579.1:c.*1424+185_*1424+186delinsAT	ENSP00000506867.1:n.*1424+185_*1424+186delinsAT
ENST00000683587.1:n.2057+185_2057+186delinsAT
ENST00000683681.1:c.*204+185_*204+186delinsAT	ENSP00000508110.1:n.*204+185_*204+186delinsAT
ENST00000683735.1:c.*1924+185_*1924+186delinsAT	ENSP00000508336.1:n.*1924+185_*1924+186delinsAT
ENST00000683853.1:c.*516_*517delinsAT	ENSP00000506834.1:n.*516_*517delinsAT
ENST00000683860.1:c.*646+185_*646+186delinsAT	ENSP00000507179.1:n.*646+185_*646+186delinsAT
ENST00000684125.1:c.*186+185_*186+186delinsAT	ENSP00000507320.1:n.*186+185_*186+186delinsAT
ENST00000684203.1:n.3975+185_3975+186delinsAT
ENST00000684231.1:c.*936+185_*936+186delinsAT	ENSP00000507748.1:n.*936+185_*936+186delinsAT
ENST00000684263.1:c.*1150+185_*1150+186delinsAT	ENSP00000508369.1:n.*1150+185_*1150+186delinsAT
ENST00000684305.1:c.1974+185_1974+186delinsAT	ENSP00000506819.1:n.1974+185_1974+186delinsAT
ENST00000684415.1:c.*1262_*1263delinsAT	ENSP00000507227.1:n.*1262_*1263delinsAT
ENST00000684520.1:c.*970_*971delinsAT	ENSP00000506826.1:n.*970_*971delinsAT
ENST00000684602.1:c.*1192+185_*1192+186delinsAT	ENSP00000507996.1:n.*1192+185_*1192+186delinsAT
ENST00000684667.1:c.1857+185_1857+186delinsAT	ENSP00000507003.1:n.1857+185_1857+186delinsAT
ENST00000268097.10:c.1526+185_1526+186delinsAT MANE Select	ENSP00000268097.6:n.1526+185_1526+186delinsAT
ENST00000268097.9:c.1526+185_1526+186delinsAT	ENSP00000268097.5:n.1526+185_1526+186delinsAT
ENST00000379915.4:c.608+185_608+186delinsAT	ENSP00000478716.1:n.608+185_608+186delinsAT
ENST00000564677.5:n.318+185_318+186delinsAT
ENST00000565873.1:n.437+185_437+186delinsAT
ENST00000566304.5:c.1559+185_1559+186delinsAT	ENSP00000455114.1:n.1559+185_1559+186delinsAT
ENST00000567027.5:c.1326_1327delinsAT
ENST00000567411.5:c.*1047+185_*1047+186delinsAT	ENSP00000455545.1:n.*1047+185_*1047+186delinsAT
ENST00000569116.1:n.418_419delinsAT
NM_000520.4:c.1526+185_1526+186delinsAT	NP_000511.2:n.1526+185_1526+186delinsAT
NM_000520.5:c.1526+185_1526+186delinsAT	NP_000511.2:n.1526+185_1526+186delinsAT
NM_001318825.1:c.1559+185_1559+186delinsAT	NP_001305754.1:n.1559+185_1559+186delinsAT
NR_134869.1:n.1955_1956delinsAT
NM_000520.6:c.1526+185_1526+186delinsAT MANE Select	NP_000511.2:n.1526+185_1526+186delinsAT
NM_001318825.2:c.1559+185_1559+186delinsAT	NP_001305754.1:n.1559+185_1559+186delinsAT
NR_134869.2:n.1496_1497delinsAT
NR_134869.3:n.1496_1497delinsAT