Canonical Allele Identifier: CA2998997138
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345479dup , CM000677.2:g.72345479dup GRCh38
NC_000015.9:g.72637820dup , CM000677.1:g.72637820dup GRCh37
NC_000015.8:g.70424874dup NCBI36
NG_009017.1:g.35702dup
NG_009017.2:g.35702dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*154dup ENSP00000457521.2:n.*154dup
ENST00000682061.1:c.*1840dup ENSP00000508316.1:n.*1840dup
ENST00000682064.1:n.1721dup
ENST00000682177.1:c.1537dup ENSP00000507409.1:n.1537dup
ENST00000682235.1:n.1517dup
ENST00000682461.1:c.1600dup ENSP00000507308.1:n.1600dup
ENST00000682653.1:n.2498dup
ENST00000682657.1:c.*1331dup ENSP00000507753.1:n.*1331dup
ENST00000682721.1:c.*1297dup ENSP00000507535.1:n.*1297dup
ENST00000682843.1:c.*1135dup ENSP00000508173.1:n.*1135dup
ENST00000683003.1:c.*1331dup ENSP00000507576.1:n.*1331dup
ENST00000683133.1:c.1678dup ENSP00000508108.1:n.1678dup
ENST00000683243.1:c.*647dup ENSP00000507042.1:n.*647dup
ENST00000683463.1:c.*983dup ENSP00000507986.1:n.*983dup
ENST00000683548.1:n.1952dup
ENST00000683579.1:c.*1392dup ENSP00000506867.1:n.*1392dup
ENST00000683587.1:n.2025dup
ENST00000683681.1:c.*172dup ENSP00000508110.1:n.*172dup
ENST00000683735.1:c.*1892dup ENSP00000508336.1:n.*1892dup
ENST00000683853.1:c.*299dup ENSP00000506834.1:n.*299dup
ENST00000683860.1:c.*614dup ENSP00000507179.1:n.*614dup
ENST00000683884.1:c.*821dup ENSP00000507004.1:n.*821dup
ENST00000684041.1:c.*627dup ENSP00000508382.1:n.*627dup
ENST00000684125.1:c.*154dup ENSP00000507320.1:n.*154dup
ENST00000684203.1:n.3943dup
ENST00000684231.1:c.*904dup ENSP00000507748.1:n.*904dup
ENST00000684263.1:c.*1118dup ENSP00000508369.1:n.*1118dup
ENST00000684305.1:c.1942dup ENSP00000506819.1:n.1942dup
ENST00000684415.1:c.*1045dup ENSP00000507227.1:n.*1045dup
ENST00000684520.1:c.*753dup ENSP00000506826.1:n.*753dup
ENST00000684602.1:c.*1160dup ENSP00000507996.1:n.*1160dup
ENST00000684667.1:c.1825dup ENSP00000507003.1:n.1825dup
ENST00000268097.10:c.1494dup MANE Select ENSP00000268097.6:p.Arg499ThrfsTer8
ENST00000268097.9:c.1494dup ENSP00000268097.5:p.Arg499ThrfsTer8
ENST00000379915.4:c.576dup ENSP00000478716.1:p.Arg193ThrfsTer8
ENST00000564677.5:n.286dup
ENST00000565873.1:n.405dup
ENST00000566304.5:c.1527dup ENSP00000455114.1:p.Arg510ThrfsTer8
ENST00000567027.5:c.1109dup
ENST00000567159.5:c.1494dup ENSP00000456489.1:p.Arg499ThrfsTer8
ENST00000567411.5:c.*1015dup ENSP00000455545.1:n.*1015dup
ENST00000568777.5:n.6714dup
ENST00000569116.1:n.201dup
NM_000520.4:c.1494dup NP_000511.2:p.Arg499ThrfsTer8
NM_000520.5:c.1494dup NP_000511.2:p.Arg499ThrfsTer8
NM_001318825.1:c.1527dup NP_001305754.1:p.Arg510ThrfsTer8
NR_134869.1:n.1738dup
NM_000520.6:c.1494dup MANE Select NP_000511.2:p.Arg499ThrfsTer8
NM_001318825.2:c.1527dup NP_001305754.1:p.Arg510ThrfsTer8
NR_134869.2:n.1279dup
NR_134869.3:n.1279dup