Canonical Allele Identifier: CA2186743668
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346548_72346550delinsCTA , CM000677.2:g.72346548_72346550delinsCTA GRCh38
NC_000015.9:g.72638889_72638891delinsCTA , CM000677.1:g.72638889_72638891delinsCTA GRCh37
NC_000015.8:g.70425943_70425945delinsCTA NCBI36
NG_009017.1:g.34630_34632delinsTAG
NG_009017.2:g.34630_34632delinsTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-225_1074-223delinsTAG ENSP00000457521.2:n.1074-225_1074-223delinsTAG
ENST00000682061.1:c.*969_*971delinsTAG ENSP00000508316.1:n.*969_*971delinsTAG
ENST00000682064.1:n.649_651delinsTAG
ENST00000682177.1:c.1350_1352delinsTAG ENSP00000507409.1:n.1350_1352delinsTAG
ENST00000682235.1:n.646_648delinsTAG
ENST00000682461.1:c.1413_1415delinsTAG ENSP00000507308.1:n.1413_1415delinsTAG
ENST00000682653.1:n.1627_1629delinsTAG
ENST00000682657.1:c.*484-225_*484-223delinsTAG ENSP00000507753.1:n.*484-225_*484-223delinsTAG
ENST00000682721.1:c.*1110_*1112delinsTAG ENSP00000507535.1:n.*1110_*1112delinsTAG
ENST00000682843.1:c.*972-225_*972-223delinsTAG ENSP00000508173.1:n.*972-225_*972-223delinsTAG
ENST00000683003.1:c.*484-225_*484-223delinsTAG ENSP00000507576.1:n.*484-225_*484-223delinsTAG
ENST00000683133.1:c.1491_1493delinsTAG ENSP00000508108.1:n.1491_1493delinsTAG
ENST00000683243.1:c.*484-225_*484-223delinsTAG ENSP00000507042.1:n.*484-225_*484-223delinsTAG
ENST00000683463.1:c.*112_*114delinsTAG ENSP00000507986.1:n.*112_*114delinsTAG
ENST00000683548.1:n.1105-225_1105-223delinsTAG
ENST00000683579.1:c.*1205_*1207delinsTAG ENSP00000506867.1:n.*1205_*1207delinsTAG
ENST00000683587.1:n.1178-225_1178-223delinsTAG
ENST00000683681.1:c.1307_1309delinsTAG ENSP00000508110.1:p.Ile436=
ENST00000683735.1:c.*1045-225_*1045-223delinsTAG ENSP00000508336.1:n.*1045-225_*1045-223delinsTAG
ENST00000683853.1:c.*112_*114delinsTAG ENSP00000506834.1:n.*112_*114delinsTAG
ENST00000683860.1:c.1307_1309delinsTAG ENSP00000507179.1:p.Ile436=
ENST00000683884.1:c.1147-225_1147-223delinsTAG ENSP00000507004.1:n.1147-225_1147-223delinsTAG
ENST00000684041.1:c.1307_1309delinsTAG ENSP00000508382.1:p.Ile436=
ENST00000684125.1:c.1074-225_1074-223delinsTAG ENSP00000507320.1:n.1074-225_1074-223delinsTAG
ENST00000684203.1:n.3072_3074delinsTAG
ENST00000684231.1:c.*717_*719delinsTAG ENSP00000507748.1:n.*717_*719delinsTAG
ENST00000684263.1:c.*247_*249delinsTAG ENSP00000508369.1:n.*247_*249delinsTAG
ENST00000684305.1:c.1755_1757delinsTAG ENSP00000506819.1:n.1755_1757delinsTAG
ENST00000684415.1:c.*174_*176delinsTAG ENSP00000507227.1:n.*174_*176delinsTAG
ENST00000684520.1:c.1307_1309delinsTAG ENSP00000506826.1:p.Ile436=
ENST00000684602.1:c.*973_*975delinsTAG ENSP00000507996.1:n.*973_*975delinsTAG
ENST00000684667.1:c.1638_1640delinsTAG ENSP00000507003.1:n.1638_1640delinsTAG
ENST00000268097.10:c.1307_1309delinsTAG MANE Select ENSP00000268097.6:p.Ile436=
ENST00000268097.9:c.1307_1309delinsTAG ENSP00000268097.5:p.Ile436=
ENST00000379915.4:c.413-225_413-223delinsTAG ENSP00000478716.1:n.413-225_413-223delinsTAG
ENST00000563762.5:c.826-225_826-223delinsTAG ENSP00000456346.1:n.826-225_826-223delinsTAG
ENST00000566304.5:c.1340_1342delinsTAG ENSP00000455114.1:p.Ile447=
ENST00000566672.5:c.*717_*719delinsTAG ENSP00000457037.1:n.*717_*719delinsTAG
ENST00000567027.5:c.946-225_946-223delinsTAG
ENST00000567159.5:c.1307_1309delinsTAG ENSP00000456489.1:p.Ile436=
ENST00000567411.5:c.*828_*830delinsTAG ENSP00000455545.1:n.*828_*830delinsTAG
ENST00000568777.5:n.6551-225_6551-223delinsTAG
ENST00000569410.5:c.*112_*114delinsTAG ENSP00000457125.1:n.*112_*114delinsTAG
NM_000520.4:c.1307_1309delinsTAG NP_000511.2:p.Ile436=
NM_000520.5:c.1307_1309delinsTAG NP_000511.2:p.Ile436=
NM_001318825.1:c.1340_1342delinsTAG NP_001305754.1:p.Ile447=
NR_134869.1:n.1575-225_1575-223delinsTAG
NM_000520.6:c.1307_1309delinsTAG MANE Select NP_000511.2:p.Ile436=
NM_001318825.2:c.1340_1342delinsTAG NP_001305754.1:p.Ile447=
NR_134869.2:n.1116-225_1116-223delinsTAG
NR_134869.3:n.1116-225_1116-223delinsTAG