Canonical Allele Identifier: CA2186744047
Gene: HEXA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72347281_72347283delinsTGG , CM000677.2:g.72347281_72347283delinsTGG GRCh38
NC_000015.9:g.72639622_72639624delinsTGG , CM000677.1:g.72639622_72639624delinsTGG GRCh37
NC_000015.8:g.70426676_70426678delinsTGG NCBI36
NG_009017.1:g.33897_33899delinsCCA
NG_009017.2:g.33897_33899delinsCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1073+765_1073+767delinsCCA ENSP00000457521.2:n.1073+765_1073+767delinsCCA
ENST00000682061.1:c.*808+403_*808+405delinsCCA ENSP00000508316.1:n.*808+403_*808+405delinsCCA
ENST00000682177.1:c.1189+403_1189+405delinsCCA ENSP00000507409.1:n.1189+403_1189+405delinsCCA
ENST00000682461.1:c.1252+403_1252+405delinsCCA ENSP00000507308.1:n.1252+403_1252+405delinsCCA
ENST00000682653.1:n.1466+403_1466+405delinsCCA
ENST00000682657.1:c.*483+765_*483+767delinsCCA ENSP00000507753.1:n.*483+765_*483+767delinsCCA
ENST00000682721.1:c.*949+403_*949+405delinsCCA ENSP00000507535.1:n.*949+403_*949+405delinsCCA
ENST00000682843.1:c.*971+765_*971+767delinsCCA ENSP00000508173.1:n.*971+765_*971+767delinsCCA
ENST00000683003.1:c.*483+765_*483+767delinsCCA ENSP00000507576.1:n.*483+765_*483+767delinsCCA
ENST00000683133.1:c.1330+403_1330+405delinsCCA ENSP00000508108.1:n.1330+403_1330+405delinsCCA
ENST00000683228.1:n.1580_1582delinsCCA
ENST00000683243.1:c.*483+765_*483+767delinsCCA ENSP00000507042.1:n.*483+765_*483+767delinsCCA
ENST00000683463.1:c.1074-573_1074-571delinsCCA ENSP00000507986.1:n.1074-573_1074-571delinsCCA
ENST00000683548.1:n.1104+765_1104+767delinsCCA
ENST00000683579.1:c.*1044+403_*1044+405delinsCCA ENSP00000506867.1:n.*1044+403_*1044+405delinsCCA
ENST00000683587.1:n.1177+403_1177+405delinsCCA
ENST00000683681.1:c.1146+403_1146+405delinsCCA ENSP00000508110.1:n.1146+403_1146+405delinsCCA
ENST00000683735.1:c.*1044+403_*1044+405delinsCCA ENSP00000508336.1:n.*1044+403_*1044+405delinsCCA
ENST00000683742.1:n.1380_1382delinsCCA
ENST00000683853.1:c.1074-573_1074-571delinsCCA ENSP00000506834.1:n.1074-573_1074-571delinsCCA
ENST00000683860.1:c.1146+403_1146+405delinsCCA ENSP00000507179.1:n.1146+403_1146+405delinsCCA
ENST00000683884.1:c.1146+403_1146+405delinsCCA ENSP00000507004.1:n.1146+403_1146+405delinsCCA
ENST00000684041.1:c.1146+403_1146+405delinsCCA ENSP00000508382.1:n.1146+403_1146+405delinsCCA
ENST00000684125.1:c.1073+765_1073+767delinsCCA ENSP00000507320.1:n.1073+765_1073+767delinsCCA
ENST00000684203.1:n.2912-573_2912-571delinsCCA
ENST00000684231.1:c.*556+403_*556+405delinsCCA ENSP00000507748.1:n.*556+403_*556+405delinsCCA
ENST00000684263.1:c.*86+403_*86+405delinsCCA ENSP00000508369.1:n.*86+403_*86+405delinsCCA
ENST00000684305.1:c.1594+403_1594+405delinsCCA ENSP00000506819.1:n.1594+403_1594+405delinsCCA
ENST00000684415.1:c.*14-573_*14-571delinsCCA ENSP00000507227.1:n.*14-573_*14-571delinsCCA
ENST00000684520.1:c.1146+403_1146+405delinsCCA ENSP00000506826.1:n.1146+403_1146+405delinsCCA
ENST00000684602.1:c.*812+403_*812+405delinsCCA ENSP00000507996.1:n.*812+403_*812+405delinsCCA
ENST00000684667.1:c.1477+403_1477+405delinsCCA ENSP00000507003.1:n.1477+403_1477+405delinsCCA
ENST00000268097.10:c.1146+403_1146+405delinsCCA MANE Select ENSP00000268097.6:n.1146+403_1146+405delinsCCA
ENST00000268097.9:c.1146+403_1146+405delinsCCA ENSP00000268097.5:n.1146+403_1146+405delinsCCA
ENST00000379915.4:c.413-958_413-956delinsCCA ENSP00000478716.1:n.413-958_413-956delinsCCA
ENST00000563762.5:c.825+765_825+767delinsCCA ENSP00000456346.1:n.825+765_825+767delinsCCA
ENST00000566304.5:c.1179+403_1179+405delinsCCA ENSP00000455114.1:n.1179+403_1179+405delinsCCA
ENST00000566672.5:c.*556+403_*556+405delinsCCA ENSP00000457037.1:n.*556+403_*556+405delinsCCA
ENST00000567027.5:c.945+765_945+767delinsCCA
ENST00000567159.5:c.1146+403_1146+405delinsCCA ENSP00000456489.1:n.1146+403_1146+405delinsCCA
ENST00000567411.5:c.*667+403_*667+405delinsCCA ENSP00000455545.1:n.*667+403_*667+405delinsCCA
ENST00000568777.5:n.6550+403_6550+405delinsCCA
ENST00000569410.5:c.1074-573_1074-571delinsCCA ENSP00000457125.1:n.1074-573_1074-571delinsCCA
NM_000520.4:c.1146+403_1146+405delinsCCA NP_000511.2:n.1146+403_1146+405delinsCCA
NM_000520.5:c.1146+403_1146+405delinsCCA NP_000511.2:n.1146+403_1146+405delinsCCA
NM_001318825.1:c.1179+403_1179+405delinsCCA NP_001305754.1:n.1179+403_1179+405delinsCCA
NR_134869.1:n.1574+765_1574+767delinsCCA
NM_000520.6:c.1146+403_1146+405delinsCCA MANE Select NP_000511.2:n.1146+403_1146+405delinsCCA
NM_001318825.2:c.1179+403_1179+405delinsCCA NP_001305754.1:n.1179+403_1179+405delinsCCA
NR_134869.2:n.1115+765_1115+767delinsCCA
NR_134869.3:n.1115+765_1115+767delinsCCA
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