Canonical Allele Identifier: CA2842250927

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345463dup , CM000677.2:g.72345463dup	GRCh38
NC_000015.9:g.72637804dup , CM000677.1:g.72637804dup	GRCh37
NC_000015.8:g.70424858dup	NCBI36
NG_009017.1:g.35718dup
NG_009017.2:g.35718dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*170dup	ENSP00000457521.2:n.*170dup
ENST00000682061.1:c.*1856dup	ENSP00000508316.1:n.*1856dup
ENST00000682064.1:n.1737dup
ENST00000682177.1:c.1553dup	ENSP00000507409.1:n.1553dup
ENST00000682235.1:n.1533dup
ENST00000682461.1:c.1616dup	ENSP00000507308.1:n.1616dup
ENST00000682653.1:n.2514dup
ENST00000682657.1:c.*1347dup	ENSP00000507753.1:n.*1347dup
ENST00000682721.1:c.*1313dup	ENSP00000507535.1:n.*1313dup
ENST00000682843.1:c.*1151dup	ENSP00000508173.1:n.*1151dup
ENST00000683003.1:c.*1347dup	ENSP00000507576.1:n.*1347dup
ENST00000683133.1:c.1694dup	ENSP00000508108.1:n.1694dup
ENST00000683243.1:c.*663dup	ENSP00000507042.1:n.*663dup
ENST00000683463.1:c.*999dup	ENSP00000507986.1:n.*999dup
ENST00000683548.1:n.1968dup
ENST00000683579.1:c.*1408dup	ENSP00000506867.1:n.*1408dup
ENST00000683587.1:n.2041dup
ENST00000683681.1:c.*188dup	ENSP00000508110.1:n.*188dup
ENST00000683735.1:c.*1908dup	ENSP00000508336.1:n.*1908dup
ENST00000683853.1:c.*315dup	ENSP00000506834.1:n.*315dup
ENST00000683860.1:c.*630dup	ENSP00000507179.1:n.*630dup
ENST00000683884.1:c.*837dup	ENSP00000507004.1:n.*837dup
ENST00000684125.1:c.*170dup	ENSP00000507320.1:n.*170dup
ENST00000684203.1:n.3959dup
ENST00000684231.1:c.*920dup	ENSP00000507748.1:n.*920dup
ENST00000684263.1:c.*1134dup	ENSP00000508369.1:n.*1134dup
ENST00000684305.1:c.1958dup	ENSP00000506819.1:n.1958dup
ENST00000684415.1:c.*1061dup	ENSP00000507227.1:n.*1061dup
ENST00000684520.1:c.*769dup	ENSP00000506826.1:n.*769dup
ENST00000684602.1:c.*1176dup	ENSP00000507996.1:n.*1176dup
ENST00000684667.1:c.1841dup	ENSP00000507003.1:n.1841dup
ENST00000268097.10:c.1510dup MANE Select	ENSP00000268097.6:p.Arg504ProfsTer3
ENST00000268097.9:c.1510dup	ENSP00000268097.5:p.Arg504ProfsTer3
ENST00000379915.4:c.592dup	ENSP00000478716.1:p.Arg198ProfsTer3
ENST00000564677.5:n.302dup
ENST00000565873.1:n.421dup
ENST00000566304.5:c.1543dup	ENSP00000455114.1:p.Arg515ProfsTer3
ENST00000567027.5:c.1125dup
ENST00000567159.5:c.1510dup	ENSP00000456489.1:p.Arg504ProfsTer3
ENST00000567411.5:c.*1031dup	ENSP00000455545.1:n.*1031dup
ENST00000568777.5:n.6730dup
ENST00000569116.1:n.217dup
NM_000520.4:c.1510dup	NP_000511.2:p.Arg504ProfsTer3
NM_000520.5:c.1510dup	NP_000511.2:p.Arg504ProfsTer3
NM_001318825.1:c.1543dup	NP_001305754.1:p.Arg515ProfsTer3
NR_134869.1:n.1754dup
NM_000520.6:c.1510dup MANE Select	NP_000511.2:p.Arg504ProfsTer3
NM_001318825.2:c.1543dup	NP_001305754.1:p.Arg515ProfsTer3
NR_134869.2:n.1295dup
NR_134869.3:n.1295dup