Canonical Allele Identifier: CA2695220942

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346314_72346324del , CM000677.2:g.72346314_72346324del	GRCh38
NC_000015.9:g.72638655_72638665del , CM000677.1:g.72638655_72638665del	GRCh37
NC_000015.8:g.70425709_70425719del	NCBI36
NG_009017.1:g.34856_34866del
NG_009017.2:g.34856_34866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1075_*2del	ENSP00000457521.2:n.[c.1075_*2del;Tyr359ArgfsTer5]
ENST00000682061.1:c.*994_*1004del	ENSP00000508316.1:n.*994_*1004del
ENST00000682064.1:n.875_885del
ENST00000682177.1:c.1375_1385del	ENSP00000507409.1:n.1375_1385del
ENST00000682235.1:n.671_681del
ENST00000682461.1:c.1438_1448del	ENSP00000507308.1:n.1438_1448del
ENST00000682653.1:n.1652_1662del
ENST00000682657.1:c.*485_*495del	ENSP00000507753.1:n.*485_*495del
ENST00000682721.1:c.*1135_*1145del	ENSP00000507535.1:n.*1135_*1145del
ENST00000682843.1:c.*973_*983del	ENSP00000508173.1:n.*973_*983del
ENST00000683003.1:c.*485_*495del	ENSP00000507576.1:n.*485_*495del
ENST00000683133.1:c.1516_1526del	ENSP00000508108.1:n.1516_1526del
ENST00000683243.1:c.*485_*495del	ENSP00000507042.1:n.*485_*495del
ENST00000683463.1:c.*137_*147del	ENSP00000507986.1:n.*137_*147del
ENST00000683548.1:n.1106_1116del
ENST00000683579.1:c.*1230_*1240del	ENSP00000506867.1:n.*1230_*1240del
ENST00000683587.1:n.1179_1189del
ENST00000683681.1:c.1332_1342del	ENSP00000508110.1:p.Thr445GlufsTer?
ENST00000683735.1:c.*1046_*1056del	ENSP00000508336.1:n.*1046_*1056del
ENST00000683853.1:c.*137_*147del	ENSP00000506834.1:n.*137_*147del
ENST00000683860.1:c.1332_1342del	ENSP00000507179.1:p.Thr445GlufsTer28
ENST00000683884.1:c.1148_1158del	ENSP00000507004.1:p.Val383GlufsTer28
ENST00000684041.1:c.1332_1342del	ENSP00000508382.1:p.Thr445GlufsTer?
ENST00000684125.1:c.1075_*2del	ENSP00000507320.1:n.[c.1075_*2del;Tyr359ArgfsTer5]
ENST00000684203.1:n.3097_3107del
ENST00000684231.1:c.*742_*752del	ENSP00000507748.1:n.*742_*752del
ENST00000684263.1:c.*272_*282del	ENSP00000508369.1:n.*272_*282del
ENST00000684305.1:c.1780_1790del	ENSP00000506819.1:n.1780_1790del
ENST00000684415.1:c.*199_*209del	ENSP00000507227.1:n.*199_*209del
ENST00000684520.1:c.1332_1342del	ENSP00000506826.1:p.Thr445GlufsTer?
ENST00000684602.1:c.*998_*1008del	ENSP00000507996.1:n.*998_*1008del
ENST00000684667.1:c.1663_1673del	ENSP00000507003.1:n.1663_1673del
ENST00000268097.10:c.1332_1342del MANE Select	ENSP00000268097.6:p.Thr445GlufsTer?
ENST00000268097.9:c.1332_1342del	ENSP00000268097.5:p.Thr445GlufsTer?
ENST00000379915.4:c.414_424del	ENSP00000478716.1:p.Thr139GlufsTer?
ENST00000563762.5:c.827_837del	ENSP00000456346.1:n.827_837del
ENST00000566304.5:c.1365_1375del	ENSP00000455114.1:p.Thr456GlufsTer?
ENST00000566672.5:c.*742_*752del	ENSP00000457037.1:n.*742_*752del
ENST00000567027.5:c.947_957del
ENST00000567159.5:c.1332_1342del	ENSP00000456489.1:p.Thr445GlufsTer?
ENST00000567411.5:c.*853_*863del	ENSP00000455545.1:n.*853_*863del
ENST00000568777.5:n.6552_6562del
ENST00000569410.5:c.*137_*147del	ENSP00000457125.1:n.*137_*147del
NM_000520.4:c.1332_1342del	NP_000511.2:p.Thr445GlufsTer?
NM_000520.5:c.1332_1342del	NP_000511.2:p.Thr445GlufsTer?
NM_001318825.1:c.1365_1375del	NP_001305754.1:p.Thr456GlufsTer?
NR_134869.1:n.1576_1586del
NM_000520.6:c.1332_1342del MANE Select	NP_000511.2:p.Thr445GlufsTer?
NM_001318825.2:c.1365_1375del	NP_001305754.1:p.Thr456GlufsTer?
NR_134869.2:n.1117_1127del
NR_134869.3:n.1117_1127del