Canonical Allele Identifier: CA2740096729
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3020542
ClinVar RCV Id: RCV003879701

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72349210_72349211insAG , CM000677.2:g.72349210_72349211insAG GRCh38
NC_000015.9:g.72641551_72641552insAG , CM000677.1:g.72641551_72641552insAG GRCh37
NC_000015.8:g.70428605_70428606insAG NCBI36
NG_009017.1:g.31970_31971insTC
NG_009017.2:g.31970_31971insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.3201_3202insTC
ENST00000567027.6:c.855_856insTC ENSP00000457521.2:p.Thr286SerfsTer6
ENST00000682061.1:c.*517_*518insTC ENSP00000508316.1:n.*517_*518insTC
ENST00000682177.1:c.898_899insTC ENSP00000507409.1:n.898_899insTC
ENST00000682461.1:c.961_962insTC ENSP00000507308.1:n.961_962insTC
ENST00000682653.1:n.886_887insTC
ENST00000682657.1:c.*265_*266insTC ENSP00000507753.1:n.*265_*266insTC
ENST00000682721.1:c.*658_*659insTC ENSP00000507535.1:n.*658_*659insTC
ENST00000682843.1:c.*753_*754insTC ENSP00000508173.1:n.*753_*754insTC
ENST00000683003.1:c.*265_*266insTC ENSP00000507576.1:n.*265_*266insTC
ENST00000683133.1:c.1039_1040insTC ENSP00000508108.1:n.1039_1040insTC
ENST00000683228.1:n.886_887insTC
ENST00000683243.1:c.*265_*266insTC ENSP00000507042.1:n.*265_*266insTC
ENST00000683463.1:c.855_856insTC ENSP00000507986.1:p.Thr286SerfsTer6
ENST00000683548.1:n.886_887insTC
ENST00000683579.1:c.*753_*754insTC ENSP00000506867.1:n.*753_*754insTC
ENST00000683587.1:n.886_887insTC
ENST00000683681.1:c.855_856insTC ENSP00000508110.1:p.Thr286SerfsTer6
ENST00000683735.1:c.*753_*754insTC ENSP00000508336.1:n.*753_*754insTC
ENST00000683742.1:n.686_687insTC
ENST00000683853.1:c.855_856insTC ENSP00000506834.1:p.Thr286SerfsTer6
ENST00000683860.1:c.855_856insTC ENSP00000507179.1:p.Thr286SerfsTer6
ENST00000683884.1:c.855_856insTC ENSP00000507004.1:p.Thr286SerfsTer6
ENST00000684041.1:c.855_856insTC ENSP00000508382.1:p.Thr286SerfsTer6
ENST00000684125.1:c.855_856insTC ENSP00000507320.1:p.Thr286SerfsTer6
ENST00000684203.1:n.2693_2694insTC
ENST00000684231.1:c.*265_*266insTC ENSP00000507748.1:n.*265_*266insTC
ENST00000684263.1:c.855_856insTC ENSP00000508369.1:p.Thr286SerfsTer6
ENST00000684305.1:c.1303_1304insTC ENSP00000506819.1:n.1303_1304insTC
ENST00000684415.1:c.855_856insTC ENSP00000507227.1:p.Thr286SerfsTer6
ENST00000684520.1:c.855_856insTC ENSP00000506826.1:p.Thr286SerfsTer6
ENST00000684602.1:c.*521_*522insTC ENSP00000507996.1:n.*521_*522insTC
ENST00000684667.1:c.1186_1187insTC ENSP00000507003.1:n.1186_1187insTC
ENST00000268097.10:c.855_856insTC MANE Select ENSP00000268097.6:p.Thr286SerfsTer6
ENST00000268097.9:c.855_856insTC ENSP00000268097.5:p.Thr286SerfsTer6
ENST00000379915.4:c.413-2885_413-2884insTC ENSP00000478716.1:n.413-2885_413-2884insTC
ENST00000563762.5:c.739-1076_739-1075insTC ENSP00000456346.1:n.739-1076_739-1075insTC
ENST00000566304.5:c.888_889insTC ENSP00000455114.1:p.Thr297SerfsTer6
ENST00000566672.5:c.*265_*266insTC ENSP00000457037.1:n.*265_*266insTC
ENST00000567027.5:c.727_728insTC
ENST00000567159.5:c.855_856insTC ENSP00000456489.1:p.Thr286SerfsTer6
ENST00000567411.5:c.*376_*377insTC ENSP00000455545.1:n.*376_*377insTC
ENST00000568777.5:n.6259_6260insTC
ENST00000569410.5:c.855_856insTC ENSP00000457125.1:p.Thr286SerfsTer6
NM_000520.4:c.855_856insTC NP_000511.2:p.Thr286SerfsTer6
NM_000520.5:c.855_856insTC NP_000511.2:p.Thr286SerfsTer6
NM_001318825.1:c.888_889insTC NP_001305754.1:p.Thr297SerfsTer6
NR_134869.1:n.1356_1357insTC
NM_000520.6:c.855_856insTC MANE Select NP_000511.2:p.Thr286SerfsTer6
NM_001318825.2:c.888_889insTC NP_001305754.1:p.Thr297SerfsTer6
NR_134869.2:n.897_898insTC
NR_134869.3:n.897_898insTC