Canonical Allele Identifier: CA2629342113
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72347546_72347547del , CM000677.2:g.72347546_72347547del GRCh38
NC_000015.9:g.72639887_72639888del , CM000677.1:g.72639887_72639888del GRCh37
NC_000015.8:g.70426941_70426942del NCBI36
NG_009017.1:g.33634_33635del
NG_009017.2:g.33634_33635del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1073+502_1073+503del ENSP00000457521.2:n.1073+502_1073+503del
ENST00000682061.1:c.*808+140_*808+141del ENSP00000508316.1:n.*808+140_*808+141del
ENST00000682177.1:c.1189+140_1189+141del ENSP00000507409.1:n.1189+140_1189+141del
ENST00000682461.1:c.1252+140_1252+141del ENSP00000507308.1:n.1252+140_1252+141del
ENST00000682653.1:n.1466+140_1466+141del
ENST00000682657.1:c.*483+502_*483+503del ENSP00000507753.1:n.*483+502_*483+503del
ENST00000682721.1:c.*949+140_*949+141del ENSP00000507535.1:n.*949+140_*949+141del
ENST00000682843.1:c.*971+502_*971+503del ENSP00000508173.1:n.*971+502_*971+503del
ENST00000683003.1:c.*483+502_*483+503del ENSP00000507576.1:n.*483+502_*483+503del
ENST00000683133.1:c.1330+140_1330+141del ENSP00000508108.1:n.1330+140_1330+141del
ENST00000683228.1:n.1317_1318del
ENST00000683243.1:c.*483+502_*483+503del ENSP00000507042.1:n.*483+502_*483+503del
ENST00000683463.1:c.1073+502_1073+503del ENSP00000507986.1:n.1073+502_1073+503del
ENST00000683548.1:n.1104+502_1104+503del
ENST00000683579.1:c.*1044+140_*1044+141del ENSP00000506867.1:n.*1044+140_*1044+141del
ENST00000683587.1:n.1177+140_1177+141del
ENST00000683681.1:c.1146+140_1146+141del ENSP00000508110.1:n.1146+140_1146+141del
ENST00000683735.1:c.*1044+140_*1044+141del ENSP00000508336.1:n.*1044+140_*1044+141del
ENST00000683742.1:n.1117_1118del
ENST00000683853.1:c.1073+502_1073+503del ENSP00000506834.1:n.1073+502_1073+503del
ENST00000683860.1:c.1146+140_1146+141del ENSP00000507179.1:n.1146+140_1146+141del
ENST00000683884.1:c.1146+140_1146+141del ENSP00000507004.1:n.1146+140_1146+141del
ENST00000684041.1:c.1146+140_1146+141del ENSP00000508382.1:n.1146+140_1146+141del
ENST00000684125.1:c.1073+502_1073+503del ENSP00000507320.1:n.1073+502_1073+503del
ENST00000684203.1:n.2911+502_2911+503del
ENST00000684231.1:c.*556+140_*556+141del ENSP00000507748.1:n.*556+140_*556+141del
ENST00000684263.1:c.*86+140_*86+141del ENSP00000508369.1:n.*86+140_*86+141del
ENST00000684305.1:c.1594+140_1594+141del ENSP00000506819.1:n.1594+140_1594+141del
ENST00000684415.1:c.*13+485_*13+486del ENSP00000507227.1:n.*13+485_*13+486del
ENST00000684520.1:c.1146+140_1146+141del ENSP00000506826.1:n.1146+140_1146+141del
ENST00000684602.1:c.*812+140_*812+141del ENSP00000507996.1:n.*812+140_*812+141del
ENST00000684667.1:c.1477+140_1477+141del ENSP00000507003.1:n.1477+140_1477+141del
ENST00000268097.10:c.1146+140_1146+141del MANE Select ENSP00000268097.6:n.1146+140_1146+141del
ENST00000268097.9:c.1146+140_1146+141del ENSP00000268097.5:n.1146+140_1146+141del
ENST00000379915.4:c.413-1221_413-1220del ENSP00000478716.1:n.413-1221_413-1220del
ENST00000563762.5:c.825+502_825+503del ENSP00000456346.1:n.825+502_825+503del
ENST00000566304.5:c.1179+140_1179+141del ENSP00000455114.1:n.1179+140_1179+141del
ENST00000566672.5:c.*556+140_*556+141del ENSP00000457037.1:n.*556+140_*556+141del
ENST00000567027.5:c.945+502_945+503del
ENST00000567159.5:c.1146+140_1146+141del ENSP00000456489.1:n.1146+140_1146+141del
ENST00000567411.5:c.*667+140_*667+141del ENSP00000455545.1:n.*667+140_*667+141del
ENST00000568777.5:n.6550+140_6550+141del
ENST00000569410.5:c.1073+502_1073+503del ENSP00000457125.1:n.1073+502_1073+503del
NM_000520.4:c.1146+140_1146+141del NP_000511.2:n.1146+140_1146+141del
NM_000520.5:c.1146+140_1146+141del NP_000511.2:n.1146+140_1146+141del
NM_001318825.1:c.1179+140_1179+141del NP_001305754.1:n.1179+140_1179+141del
NR_134869.1:n.1574+502_1574+503del
NM_000520.6:c.1146+140_1146+141del MANE Select NP_000511.2:n.1146+140_1146+141del
NM_001318825.2:c.1179+140_1179+141del NP_001305754.1:n.1179+140_1179+141del
NR_134869.2:n.1115+502_1115+503del
NR_134869.3:n.1115+502_1115+503del