Canonical Allele Identifier: CA715471650
Gene: HEXA HGNC NCBI

Linked Data

dbSNP Id: rs1353180647

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346535_72346559del , CM000677.2:g.72346535_72346559del GRCh38
NC_000015.9:g.72638876_72638900del , CM000677.1:g.72638876_72638900del GRCh37
NC_000015.8:g.70425930_70425954del NCBI36
NG_009017.1:g.34625_34649del
NG_009017.2:g.34625_34649del

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.1074-230_1074-206del ENSP00000457521.2:n.1074-230_1074-206del
ENST00000682061.1:c.*964_*988del ENSP00000508316.1:n.*964_*988del
ENST00000682064.1:n.644_668del
ENST00000682177.1:c.1345_1369del ENSP00000507409.1:n.1345_1369del
ENST00000682235.1:n.641_665del
ENST00000682461.1:c.1408_1432del ENSP00000507308.1:n.1408_1432del
ENST00000682653.1:n.1622_1646del
ENST00000682657.1:c.*484-230_*484-206del ENSP00000507753.1:n.*484-230_*484-206del
ENST00000682721.1:c.*1105_*1129del ENSP00000507535.1:n.*1105_*1129del
ENST00000682843.1:c.*972-230_*972-206del ENSP00000508173.1:n.*972-230_*972-206del
ENST00000683003.1:c.*484-230_*484-206del ENSP00000507576.1:n.*484-230_*484-206del
ENST00000683133.1:c.1486_1510del ENSP00000508108.1:n.1486_1510del
ENST00000683243.1:c.*484-230_*484-206del ENSP00000507042.1:n.*484-230_*484-206del
ENST00000683463.1:c.*107_*131del ENSP00000507986.1:n.*107_*131del
ENST00000683548.1:n.1105-230_1105-206del
ENST00000683579.1:c.*1200_*1224del ENSP00000506867.1:n.*1200_*1224del
ENST00000683587.1:n.1178-230_1178-206del
ENST00000683681.1:c.1302_1326del ENSP00000508110.1:p.Phe434LeufsTer11
ENST00000683735.1:c.*1045-230_*1045-206del ENSP00000508336.1:n.*1045-230_*1045-206de...
ENST00000683853.1:c.*107_*131del ENSP00000506834.1:n.*107_*131del
ENST00000683860.1:c.1302_1326del ENSP00000507179.1:p.Phe434LeufsTer11
ENST00000683884.1:c.1147-230_1147-206del ENSP00000507004.1:n.1147-230_1147-206del
ENST00000684041.1:c.1302_1326del ENSP00000508382.1:p.Phe434LeufsTer11
ENST00000684125.1:c.1074-230_1074-206del ENSP00000507320.1:n.1074-230_1074-206del
ENST00000684203.1:n.3067_3091del
ENST00000684231.1:c.*712_*736del ENSP00000507748.1:n.*712_*736del
ENST00000684263.1:c.*242_*266del ENSP00000508369.1:n.*242_*266del
ENST00000684305.1:c.1750_1774del ENSP00000506819.1:n.1750_1774del
ENST00000684415.1:c.*169_*193del ENSP00000507227.1:n.*169_*193del
ENST00000684520.1:c.1302_1326del ENSP00000506826.1:p.Phe434LeufsTer11
ENST00000684602.1:c.*968_*992del ENSP00000507996.1:n.*968_*992del
ENST00000684667.1:c.1633_1657del ENSP00000507003.1:n.1633_1657del
ENST00000268097.10:c.1302_1326del MANE Select ENSP00000268097.6:p.Phe434LeufsTer11
ENST00000268097.9:c.1302_1326del ENSP00000268097.5:p.Phe434LeufsTer11
ENST00000379915.4:c.413-230_413-206del ENSP00000478716.1:n.413-230_413-206del
ENST00000563762.5:c.826-230_826-206del ENSP00000456346.1:n.826-230_826-206del
ENST00000566304.5:c.1335_1359del ENSP00000455114.1:p.Phe445LeufsTer11
ENST00000566672.5:c.*712_*736del ENSP00000457037.1:n.*712_*736del
ENST00000567027.5:c.946-230_946-206del
ENST00000567159.5:c.1302_1326del ENSP00000456489.1:p.Phe434LeufsTer11
ENST00000567411.5:c.*823_*847del ENSP00000455545.1:n.*823_*847del
ENST00000568777.5:n.6551-230_6551-206del
ENST00000569410.5:c.*107_*131del ENSP00000457125.1:n.*107_*131del
NM_000520.4:c.1302_1326del NP_000511.2:p.Phe434LeufsTer11
NM_000520.5:c.1302_1326del NP_000511.2:p.Phe434LeufsTer11
NM_001318825.1:c.1335_1359del NP_001305754.1:p.Phe445LeufsTer11
NR_134869.1:n.1575-230_1575-206del
NM_000520.6:c.1302_1326del MANE Select NP_000511.2:p.Phe434LeufsTer11
NM_001318825.2:c.1335_1359del NP_001305754.1:p.Phe445LeufsTer11
NR_134869.2:n.1116-230_1116-206del
NR_134869.3:n.1116-230_1116-206del