Canonical Allele Identifier: CA2697549197

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2707139
• ClinVar RCV Id: RCV003503637

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346604dup , CM000677.2:g.72346604dup	GRCh38
NC_000015.9:g.72638945dup , CM000677.1:g.72638945dup	GRCh37
NC_000015.8:g.70425999dup	NCBI36
NG_009017.1:g.34580dup
NG_009017.2:g.34580dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-275dup	ENSP00000457521.2:n.1074-275dup
ENST00000682061.1:c.*919dup	ENSP00000508316.1:n.*919dup
ENST00000682064.1:n.599dup
ENST00000682177.1:c.1300dup	ENSP00000507409.1:n.1300dup
ENST00000682235.1:n.596dup
ENST00000682461.1:c.1363dup	ENSP00000507308.1:n.1363dup
ENST00000682653.1:n.1577dup
ENST00000682657.1:c.*484-275dup	ENSP00000507753.1:n.*484-275dup
ENST00000682721.1:c.*1060dup	ENSP00000507535.1:n.*1060dup
ENST00000682843.1:c.*972-275dup	ENSP00000508173.1:n.*972-275dup
ENST00000683003.1:c.*484-275dup	ENSP00000507576.1:n.*484-275dup
ENST00000683133.1:c.1441dup	ENSP00000508108.1:n.1441dup
ENST00000683243.1:c.*484-275dup	ENSP00000507042.1:n.*484-275dup
ENST00000683463.1:c.*62dup	ENSP00000507986.1:n.*62dup
ENST00000683548.1:n.1105-275dup
ENST00000683579.1:c.*1155dup	ENSP00000506867.1:n.*1155dup
ENST00000683587.1:n.1178-275dup
ENST00000683681.1:c.1257dup	ENSP00000508110.1:p.Trp420LeufsTer11
ENST00000683735.1:c.*1045-275dup	ENSP00000508336.1:n.*1045-275dup
ENST00000683853.1:c.*62dup	ENSP00000506834.1:n.*62dup
ENST00000683860.1:c.1257dup	ENSP00000507179.1:p.Trp420LeufsTer11
ENST00000683884.1:c.1147-275dup	ENSP00000507004.1:n.1147-275dup
ENST00000684041.1:c.1257dup	ENSP00000508382.1:p.Trp420LeufsTer11
ENST00000684125.1:c.1074-275dup	ENSP00000507320.1:n.1074-275dup
ENST00000684203.1:n.3022dup
ENST00000684231.1:c.*667dup	ENSP00000507748.1:n.*667dup
ENST00000684263.1:c.*197dup	ENSP00000508369.1:n.*197dup
ENST00000684305.1:c.1705dup	ENSP00000506819.1:n.1705dup
ENST00000684415.1:c.*124dup	ENSP00000507227.1:n.*124dup
ENST00000684520.1:c.1257dup	ENSP00000506826.1:p.Trp420LeufsTer11
ENST00000684602.1:c.*923dup	ENSP00000507996.1:n.*923dup
ENST00000684667.1:c.1588dup	ENSP00000507003.1:n.1588dup
ENST00000268097.10:c.1257dup MANE Select	ENSP00000268097.6:p.Trp420LeufsTer11
ENST00000268097.9:c.1257dup	ENSP00000268097.5:p.Trp420LeufsTer11
ENST00000379915.4:c.413-275dup	ENSP00000478716.1:n.413-275dup
ENST00000563762.5:c.826-275dup	ENSP00000456346.1:n.826-275dup
ENST00000566304.5:c.1290dup	ENSP00000455114.1:p.Trp431LeufsTer11
ENST00000566672.5:c.*667dup	ENSP00000457037.1:n.*667dup
ENST00000567027.5:c.946-275dup
ENST00000567159.5:c.1257dup	ENSP00000456489.1:p.Trp420LeufsTer11
ENST00000567411.5:c.*778dup	ENSP00000455545.1:n.*778dup
ENST00000568777.5:n.6551-275dup
ENST00000569410.5:c.*62dup	ENSP00000457125.1:n.*62dup
NM_000520.4:c.1257dup	NP_000511.2:p.Trp420LeufsTer11
NM_000520.5:c.1257dup	NP_000511.2:p.Trp420LeufsTer11
NM_001318825.1:c.1290dup	NP_001305754.1:p.Trp431LeufsTer11
NR_134869.1:n.1575-275dup
NM_000520.6:c.1257dup MANE Select	NP_000511.2:p.Trp420LeufsTer11
NM_001318825.2:c.1290dup	NP_001305754.1:p.Trp431LeufsTer11
NR_134869.2:n.1116-275dup
NR_134869.3:n.1116-275dup