Canonical Allele Identifier: CA325516
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3889
dbSNP Id: rs387906309

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346580_72346583dup , CM000677.2:g.72346580_72346583dup GRCh38
NC_000015.9:g.72638921_72638924dup , CM000677.1:g.72638921_72638924dup GRCh37
NC_000015.8:g.70425975_70425978dup NCBI36
NG_009017.1:g.34597_34600dup
NG_009017.2:g.34597_34600dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-258_1074-255dup ENSP00000457521.2:n.1074-258_1074-255dup
ENST00000682061.1:c.*936_*939dup ENSP00000508316.1:n.*936_*939dup
ENST00000682064.1:n.616_619dup
ENST00000682177.1:c.1317_1320dup ENSP00000507409.1:n.1317_1320dup
ENST00000682235.1:n.613_616dup
ENST00000682461.1:c.1380_1383dup ENSP00000507308.1:n.1380_1383dup
ENST00000682653.1:n.1594_1597dup
ENST00000682657.1:c.*484-258_*484-255dup ENSP00000507753.1:n.*484-258_*484-255dup
ENST00000682721.1:c.*1077_*1080dup ENSP00000507535.1:n.*1077_*1080dup
ENST00000682843.1:c.*972-258_*972-255dup ENSP00000508173.1:n.*972-258_*972-255dup
ENST00000683003.1:c.*484-258_*484-255dup ENSP00000507576.1:n.*484-258_*484-255dup
ENST00000683133.1:c.1458_1461dup ENSP00000508108.1:n.1458_1461dup
ENST00000683243.1:c.*484-258_*484-255dup ENSP00000507042.1:n.*484-258_*484-255dup
ENST00000683463.1:c.*79_*82dup ENSP00000507986.1:n.*79_*82dup
ENST00000683548.1:n.1105-258_1105-255dup
ENST00000683579.1:c.*1172_*1175dup ENSP00000506867.1:n.*1172_*1175dup
ENST00000683587.1:n.1178-258_1178-255dup
ENST00000683681.1:c.1274_1277dup ENSP00000508110.1:p.Tyr427IlefsTer5
ENST00000683735.1:c.*1045-258_*1045-255dup ENSP00000508336.1:n.*1045-258_*1045-255dup
ENST00000683853.1:c.*79_*82dup ENSP00000506834.1:n.*79_*82dup
ENST00000683860.1:c.1274_1277dup ENSP00000507179.1:p.Tyr427IlefsTer5
ENST00000683884.1:c.1147-258_1147-255dup ENSP00000507004.1:n.1147-258_1147-255dup
ENST00000684041.1:c.1274_1277dup ENSP00000508382.1:p.Tyr427IlefsTer5
ENST00000684125.1:c.1074-258_1074-255dup ENSP00000507320.1:n.1074-258_1074-255dup
ENST00000684203.1:n.3039_3042dup
ENST00000684231.1:c.*684_*687dup ENSP00000507748.1:n.*684_*687dup
ENST00000684263.1:c.*214_*217dup ENSP00000508369.1:n.*214_*217dup
ENST00000684305.1:c.1722_1725dup ENSP00000506819.1:n.1722_1725dup
ENST00000684415.1:c.*141_*144dup ENSP00000507227.1:n.*141_*144dup
ENST00000684520.1:c.1274_1277dup ENSP00000506826.1:p.Tyr427IlefsTer5
ENST00000684602.1:c.*940_*943dup ENSP00000507996.1:n.*940_*943dup
ENST00000684667.1:c.1605_1608dup ENSP00000507003.1:n.1605_1608dup
ENST00000268097.10:c.1274_1277dup MANE Select ENSP00000268097.6:p.Tyr427IlefsTer5
ENST00000268097.9:c.1274_1277dup ENSP00000268097.5:p.Tyr427IlefsTer5
ENST00000379915.4:c.413-258_413-255dup ENSP00000478716.1:n.413-258_413-255dup
ENST00000563762.5:c.826-258_826-255dup ENSP00000456346.1:n.826-258_826-255dup
ENST00000566304.5:c.1307_1310dup ENSP00000455114.1:p.Tyr438IlefsTer5
ENST00000566672.5:c.*684_*687dup ENSP00000457037.1:n.*684_*687dup
ENST00000567027.5:c.946-258_946-255dup
ENST00000567159.5:c.1274_1277dup ENSP00000456489.1:p.Tyr427IlefsTer5
ENST00000567411.5:c.*795_*798dup ENSP00000455545.1:n.*795_*798dup
ENST00000568777.5:n.6551-258_6551-255dup
ENST00000569410.5:c.*79_*82dup ENSP00000457125.1:n.*79_*82dup
NM_000520.4:c.1274_1277dup NP_000511.2:p.Tyr427IlefsTer5
NM_000520.5:c.1274_1277dup NP_000511.2:p.Tyr427IlefsTer5
NM_001318825.1:c.1307_1310dup NP_001305754.1:p.Tyr438IlefsTer5
NR_134869.1:n.1575-258_1575-255dup
NM_000520.6:c.1274_1277dup MANE Select NP_000511.2:p.Tyr427IlefsTer5
NM_001318825.2:c.1307_1310dup NP_001305754.1:p.Tyr438IlefsTer5
NR_134869.2:n.1116-258_1116-255dup
NR_134869.3:n.1116-258_1116-255dup