Canonical Allele Identifier: CA2842250928
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345489dup , CM000677.2:g.72345489dup GRCh38
NC_000015.9:g.72637830dup , CM000677.1:g.72637830dup GRCh37
NC_000015.8:g.70424884dup NCBI36
NG_009017.1:g.35693dup
NG_009017.2:g.35693dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*145dup ENSP00000457521.2:n.*145dup
ENST00000682061.1:c.*1831dup ENSP00000508316.1:n.*1831dup
ENST00000682064.1:n.1712dup
ENST00000682177.1:c.1528dup ENSP00000507409.1:n.1528dup
ENST00000682235.1:n.1508dup
ENST00000682461.1:c.1591dup ENSP00000507308.1:n.1591dup
ENST00000682653.1:n.2489dup
ENST00000682657.1:c.*1322dup ENSP00000507753.1:n.*1322dup
ENST00000682721.1:c.*1288dup ENSP00000507535.1:n.*1288dup
ENST00000682843.1:c.*1126dup ENSP00000508173.1:n.*1126dup
ENST00000683003.1:c.*1322dup ENSP00000507576.1:n.*1322dup
ENST00000683133.1:c.1669dup ENSP00000508108.1:n.1669dup
ENST00000683243.1:c.*638dup ENSP00000507042.1:n.*638dup
ENST00000683463.1:c.*974dup ENSP00000507986.1:n.*974dup
ENST00000683548.1:n.1943dup
ENST00000683579.1:c.*1383dup ENSP00000506867.1:n.*1383dup
ENST00000683587.1:n.2016dup
ENST00000683681.1:c.*163dup ENSP00000508110.1:n.*163dup
ENST00000683735.1:c.*1883dup ENSP00000508336.1:n.*1883dup
ENST00000683853.1:c.*290dup ENSP00000506834.1:n.*290dup
ENST00000683860.1:c.*605dup ENSP00000507179.1:n.*605dup
ENST00000683884.1:c.*812dup ENSP00000507004.1:n.*812dup
ENST00000684041.1:c.*618dup ENSP00000508382.1:n.*618dup
ENST00000684125.1:c.*145dup ENSP00000507320.1:n.*145dup
ENST00000684203.1:n.3934dup
ENST00000684231.1:c.*895dup ENSP00000507748.1:n.*895dup
ENST00000684263.1:c.*1109dup ENSP00000508369.1:n.*1109dup
ENST00000684305.1:c.1933dup ENSP00000506819.1:n.1933dup
ENST00000684415.1:c.*1036dup ENSP00000507227.1:n.*1036dup
ENST00000684520.1:c.*744dup ENSP00000506826.1:n.*744dup
ENST00000684602.1:c.*1151dup ENSP00000507996.1:n.*1151dup
ENST00000684667.1:c.1816dup ENSP00000507003.1:n.1816dup
ENST00000268097.10:c.1485dup MANE Select ENSP00000268097.6:p.Ala496CysfsTer3
ENST00000268097.9:c.1485dup ENSP00000268097.5:p.Ala496CysfsTer3
ENST00000379915.4:c.567dup ENSP00000478716.1:p.Ala190CysfsTer3
ENST00000564677.5:n.277dup
ENST00000565873.1:n.396dup
ENST00000566304.5:c.1518dup ENSP00000455114.1:p.Ala507CysfsTer3
ENST00000567027.5:c.1100dup
ENST00000567159.5:c.1485dup ENSP00000456489.1:p.Ala496CysfsTer3
ENST00000567411.5:c.*1006dup ENSP00000455545.1:n.*1006dup
ENST00000568777.5:n.6705dup
ENST00000569116.1:n.192dup
NM_000520.4:c.1485dup NP_000511.2:p.Ala496CysfsTer3
NM_000520.5:c.1485dup NP_000511.2:p.Ala496CysfsTer3
NM_001318825.1:c.1518dup NP_001305754.1:p.Ala507CysfsTer3
NR_134869.1:n.1729dup
NM_000520.6:c.1485dup MANE Select NP_000511.2:p.Ala496CysfsTer3
NM_001318825.2:c.1518dup NP_001305754.1:p.Ala507CysfsTer3
NR_134869.2:n.1270dup
NR_134869.3:n.1270dup