Canonical Allele Identifier: CA912992685
Gene: HEXA HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.72638556dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346215dup , CM000677.2:g.72346215dup GRCh38
NC_000015.9:g.72638556dup , CM000677.1:g.72638556dup GRCh37
NC_000015.8:g.70425610dup NCBI36
NG_009017.1:g.34965dup
NG_009017.2:g.34965dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*81+20dup ENSP00000457521.2:n.*81+20dup
ENST00000682061.1:c.*1103dup ENSP00000508316.1:n.*1103dup
ENST00000682064.1:n.984dup
ENST00000682177.1:c.1464+20dup ENSP00000507409.1:n.1464+20dup
ENST00000682235.1:n.780dup
ENST00000682461.1:c.1527+20dup ENSP00000507308.1:n.1527+20dup
ENST00000682653.1:n.1761dup
ENST00000682657.1:c.*594dup ENSP00000507753.1:n.*594dup
ENST00000682721.1:c.*1224+20dup ENSP00000507535.1:n.*1224+20dup
ENST00000682843.1:c.*1062+20dup ENSP00000508173.1:n.*1062+20dup
ENST00000683003.1:c.*594dup ENSP00000507576.1:n.*594dup
ENST00000683133.1:c.1605+20dup ENSP00000508108.1:n.1605+20dup
ENST00000683243.1:c.*574+20dup ENSP00000507042.1:n.*574+20dup
ENST00000683463.1:c.*246dup ENSP00000507986.1:n.*246dup
ENST00000683548.1:n.1215dup
ENST00000683579.1:c.*1319+20dup ENSP00000506867.1:n.*1319+20dup
ENST00000683587.1:n.1288dup
ENST00000683681.1:c.1421+20dup ENSP00000508110.1:n.1421+20dup
ENST00000683735.1:c.*1155dup ENSP00000508336.1:n.*1155dup
ENST00000683853.1:c.*226+20dup ENSP00000506834.1:n.*226+20dup
ENST00000683860.1:c.1421+20dup ENSP00000507179.1:n.1421+20dup
ENST00000683884.1:c.*84dup ENSP00000507004.1:n.*84dup
ENST00000684041.1:c.*16dup ENSP00000508382.1:n.*16dup
ENST00000684125.1:c.*81+20dup ENSP00000507320.1:n.*81+20dup
ENST00000684203.1:n.3206dup
ENST00000684231.1:c.*831+20dup ENSP00000507748.1:n.*831+20dup
ENST00000684263.1:c.*381dup ENSP00000508369.1:n.*381dup
ENST00000684305.1:c.1869+20dup ENSP00000506819.1:n.1869+20dup
ENST00000684415.1:c.*308dup ENSP00000507227.1:n.*308dup
ENST00000684520.1:c.*16dup ENSP00000506826.1:n.*16dup
ENST00000684602.1:c.*1087+20dup ENSP00000507996.1:n.*1087+20dup
ENST00000684667.1:c.1752+20dup ENSP00000507003.1:n.1752+20dup
ENST00000268097.10:c.1421+20dup MANE Select ENSP00000268097.6:n.1421+20dup
ENST00000268097.9:c.1421+20dup ENSP00000268097.5:n.1421+20dup
ENST00000379915.4:c.503+20dup ENSP00000478716.1:n.503+20dup
ENST00000563762.5:c.936dup ENSP00000456346.1:n.936dup
ENST00000566304.5:c.1454+20dup ENSP00000455114.1:n.1454+20dup
ENST00000566672.5:c.*851dup ENSP00000457037.1:n.*851dup
ENST00000567027.5:c.1036+20dup
ENST00000567159.5:c.1421+20dup ENSP00000456489.1:n.1421+20dup
ENST00000567411.5:c.*942+20dup ENSP00000455545.1:n.*942+20dup
ENST00000568777.5:n.6641+20dup
NM_000520.4:c.1421+20dup NP_000511.2:n.1421+20dup
NM_000520.5:c.1421+20dup NP_000511.2:n.1421+20dup
NM_001318825.1:c.1454+20dup NP_001305754.1:n.1454+20dup
NR_134869.1:n.1665+20dup
NM_000520.6:c.1421+20dup MANE Select NP_000511.2:n.1421+20dup
NM_001318825.2:c.1454+20dup NP_001305754.1:n.1454+20dup
NR_134869.2:n.1206+20dup
NR_134869.3:n.1206+20dup