Canonical Allele Identifier: CA2838688330

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345475dup , CM000677.2:g.72345475dup	GRCh38
NC_000015.9:g.72637816dup , CM000677.1:g.72637816dup	GRCh37
NC_000015.8:g.70424870dup	NCBI36
NG_009017.1:g.35707dup
NG_009017.2:g.35707dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*159dup	ENSP00000457521.2:n.*159dup
ENST00000682061.1:c.*1845dup	ENSP00000508316.1:n.*1845dup
ENST00000682064.1:n.1726dup
ENST00000682177.1:c.1542dup	ENSP00000507409.1:n.1542dup
ENST00000682235.1:n.1522dup
ENST00000682461.1:c.1605dup	ENSP00000507308.1:n.1605dup
ENST00000682653.1:n.2503dup
ENST00000682657.1:c.*1336dup	ENSP00000507753.1:n.*1336dup
ENST00000682721.1:c.*1302dup	ENSP00000507535.1:n.*1302dup
ENST00000682843.1:c.*1140dup	ENSP00000508173.1:n.*1140dup
ENST00000683003.1:c.*1336dup	ENSP00000507576.1:n.*1336dup
ENST00000683133.1:c.1683dup	ENSP00000508108.1:n.1683dup
ENST00000683243.1:c.*652dup	ENSP00000507042.1:n.*652dup
ENST00000683463.1:c.*988dup	ENSP00000507986.1:n.*988dup
ENST00000683548.1:n.1957dup
ENST00000683579.1:c.*1397dup	ENSP00000506867.1:n.*1397dup
ENST00000683587.1:n.2030dup
ENST00000683681.1:c.*177dup	ENSP00000508110.1:n.*177dup
ENST00000683735.1:c.*1897dup	ENSP00000508336.1:n.*1897dup
ENST00000683853.1:c.*304dup	ENSP00000506834.1:n.*304dup
ENST00000683860.1:c.*619dup	ENSP00000507179.1:n.*619dup
ENST00000683884.1:c.*826dup	ENSP00000507004.1:n.*826dup
ENST00000684041.1:c.*632dup	ENSP00000508382.1:n.*632dup
ENST00000684125.1:c.*159dup	ENSP00000507320.1:n.*159dup
ENST00000684203.1:n.3948dup
ENST00000684231.1:c.*909dup	ENSP00000507748.1:n.*909dup
ENST00000684263.1:c.*1123dup	ENSP00000508369.1:n.*1123dup
ENST00000684305.1:c.1947dup	ENSP00000506819.1:n.1947dup
ENST00000684415.1:c.*1050dup	ENSP00000507227.1:n.*1050dup
ENST00000684520.1:c.*758dup	ENSP00000506826.1:n.*758dup
ENST00000684602.1:c.*1165dup	ENSP00000507996.1:n.*1165dup
ENST00000684667.1:c.1830dup	ENSP00000507003.1:n.1830dup
ENST00000268097.10:c.1499dup MANE Select	ENSP00000268097.6:p.Leu500PhefsTer7
ENST00000268097.9:c.1499dup	ENSP00000268097.5:p.Leu500PhefsTer7
ENST00000379915.4:c.581dup	ENSP00000478716.1:p.Leu194PhefsTer7
ENST00000564677.5:n.291dup
ENST00000565873.1:n.410dup
ENST00000566304.5:c.1532dup	ENSP00000455114.1:p.Leu511PhefsTer7
ENST00000567027.5:c.1114dup
ENST00000567159.5:c.1499dup	ENSP00000456489.1:p.Leu500PhefsTer7
ENST00000567411.5:c.*1020dup	ENSP00000455545.1:n.*1020dup
ENST00000568777.5:n.6719dup
ENST00000569116.1:n.206dup
NM_000520.4:c.1499dup	NP_000511.2:p.Leu500PhefsTer7
NM_000520.5:c.1499dup	NP_000511.2:p.Leu500PhefsTer7
NM_001318825.1:c.1532dup	NP_001305754.1:p.Leu511PhefsTer7
NR_134869.1:n.1743dup
NM_000520.6:c.1499dup MANE Select	NP_000511.2:p.Leu500PhefsTer7
NM_001318825.2:c.1532dup	NP_001305754.1:p.Leu511PhefsTer7
NR_134869.2:n.1284dup
NR_134869.3:n.1284dup