Canonical Allele Identifier: CA2186743158

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345272_72345273delinsAT , CM000677.2:g.72345272_72345273delinsAT	GRCh38
NC_000015.9:g.72637613_72637614delinsAT , CM000677.1:g.72637613_72637614delinsAT	GRCh37
NC_000015.8:g.70424667_70424668delinsAT	NCBI36
NG_009017.1:g.35907_35908delinsAT
NG_009017.2:g.35907_35908delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*359_*360delinsAT	ENSP00000457521.2:n.*359_*360delinsAT
ENST00000682061.1:c.*2045_*2046delinsAT	ENSP00000508316.1:n.*2045_*2046delinsAT
ENST00000682064.1:n.1753+173_1753+174delinsAT
ENST00000682177.1:c.1742_1743delinsAT	ENSP00000507409.1:n.1742_1743delinsAT
ENST00000682235.1:n.1549+173_1549+174delinsAT
ENST00000682461.1:c.1632+173_1632+174delinsAT	ENSP00000507308.1:n.1632+173_1632+174delinsAT
ENST00000682653.1:n.2703_2704delinsAT
ENST00000682657.1:c.*1536_*1537delinsAT	ENSP00000507753.1:n.*1536_*1537delinsAT
ENST00000682721.1:c.*1329+173_*1329+174delinsAT	ENSP00000507535.1:n.*1329+173_*1329+174delinsAT
ENST00000682843.1:c.*1167+173_*1167+174delinsAT	ENSP00000508173.1:n.*1167+173_*1167+174delinsAT
ENST00000683133.1:c.1710+173_1710+174delinsAT	ENSP00000508108.1:n.1710+173_1710+174delinsAT
ENST00000683243.1:c.*679+173_*679+174delinsAT	ENSP00000507042.1:n.*679+173_*679+174delinsAT
ENST00000683463.1:c.*1015+173_*1015+174delinsAT	ENSP00000507986.1:n.*1015+173_*1015+174delinsAT
ENST00000683548.1:n.1984+173_1984+174delinsAT
ENST00000683579.1:c.*1424+173_*1424+174delinsAT	ENSP00000506867.1:n.*1424+173_*1424+174delinsAT
ENST00000683587.1:n.2057+173_2057+174delinsAT
ENST00000683681.1:c.*204+173_*204+174delinsAT	ENSP00000508110.1:n.*204+173_*204+174delinsAT
ENST00000683735.1:c.*1924+173_*1924+174delinsAT	ENSP00000508336.1:n.*1924+173_*1924+174delinsAT
ENST00000683853.1:c.*504_*505delinsAT	ENSP00000506834.1:n.*504_*505delinsAT
ENST00000683860.1:c.*646+173_*646+174delinsAT	ENSP00000507179.1:n.*646+173_*646+174delinsAT
ENST00000683884.1:c.*1026_*1027delinsAT	ENSP00000507004.1:n.*1026_*1027delinsAT
ENST00000684125.1:c.*186+173_*186+174delinsAT	ENSP00000507320.1:n.*186+173_*186+174delinsAT
ENST00000684203.1:n.3975+173_3975+174delinsAT
ENST00000684231.1:c.*936+173_*936+174delinsAT	ENSP00000507748.1:n.*936+173_*936+174delinsAT
ENST00000684263.1:c.*1150+173_*1150+174delinsAT	ENSP00000508369.1:n.*1150+173_*1150+174delinsAT
ENST00000684305.1:c.1974+173_1974+174delinsAT	ENSP00000506819.1:n.1974+173_1974+174delinsAT
ENST00000684415.1:c.*1250_*1251delinsAT	ENSP00000507227.1:n.*1250_*1251delinsAT
ENST00000684520.1:c.*958_*959delinsAT	ENSP00000506826.1:n.*958_*959delinsAT
ENST00000684602.1:c.*1192+173_*1192+174delinsAT	ENSP00000507996.1:n.*1192+173_*1192+174delinsAT
ENST00000684667.1:c.1857+173_1857+174delinsAT	ENSP00000507003.1:n.1857+173_1857+174delinsAT
ENST00000268097.10:c.1526+173_1526+174delinsAT MANE Select	ENSP00000268097.6:n.1526+173_1526+174delinsAT
ENST00000268097.9:c.1526+173_1526+174delinsAT	ENSP00000268097.5:n.1526+173_1526+174delinsAT
ENST00000379915.4:c.608+173_608+174delinsAT	ENSP00000478716.1:n.608+173_608+174delinsAT
ENST00000564677.5:n.318+173_318+174delinsAT
ENST00000565873.1:n.437+173_437+174delinsAT
ENST00000566304.5:c.1559+173_1559+174delinsAT	ENSP00000455114.1:n.1559+173_1559+174delinsAT
ENST00000567027.5:c.1314_1315delinsAT
ENST00000567411.5:c.*1047+173_*1047+174delinsAT	ENSP00000455545.1:n.*1047+173_*1047+174delinsAT
ENST00000569116.1:n.406_407delinsAT
NM_000520.4:c.1526+173_1526+174delinsAT	NP_000511.2:n.1526+173_1526+174delinsAT
NM_000520.5:c.1526+173_1526+174delinsAT	NP_000511.2:n.1526+173_1526+174delinsAT
NM_001318825.1:c.1559+173_1559+174delinsAT	NP_001305754.1:n.1559+173_1559+174delinsAT
NR_134869.1:n.1943_1944delinsAT
NM_000520.6:c.1526+173_1526+174delinsAT MANE Select	NP_000511.2:n.1526+173_1526+174delinsAT
NM_001318825.2:c.1559+173_1559+174delinsAT	NP_001305754.1:n.1559+173_1559+174delinsAT
NR_134869.2:n.1484_1485delinsAT
NR_134869.3:n.1484_1485delinsAT