Canonical Allele Identifier: CA971331882

Gene: HEXA

Linked Data

• dbSNP Id: rs2088723747
• gnomAD v3: 15-72353125-GCCC-G
• gnomAD v4: 15-72353125-GCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353127_72353129del , CM000677.2:g.72353127_72353129del	GRCh38
NC_000015.9:g.72645468_72645470del , CM000677.1:g.72645468_72645470del	GRCh37
NC_000015.8:g.70432522_70432524del	NCBI36
NG_009017.1:g.28052_28054del
NG_009017.2:g.28052_28054del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2856_2858del
ENST00000567027.6:c.510_512del	ENSP00000457521.2:p.Gly171del
ENST00000568260.2:c.530_532del	ENSP00000458128.2:n.530_532del
ENST00000682061.1:c.*172_*174del	ENSP00000508316.1:n.*172_*174del
ENST00000682177.1:c.510_512del	ENSP00000507409.1:p.Gly171del
ENST00000682461.1:c.677-1894_677-1892del	ENSP00000507308.1:n.677-1894_677-1892del
ENST00000682653.1:n.541_543del
ENST00000682657.1:c.254-1894_254-1892del	ENSP00000507753.1:n.254-1894_254-1892del
ENST00000682721.1:c.*313_*315del	ENSP00000507535.1:n.*313_*315del
ENST00000682843.1:c.*408_*410del	ENSP00000508173.1:n.*408_*410del
ENST00000683003.1:c.413-1894_413-1892del	ENSP00000507576.1:n.413-1894_413-1892del
ENST00000683133.1:c.694_696del	ENSP00000508108.1:n.694_696del
ENST00000683228.1:n.541_543del
ENST00000683243.1:c.413-1894_413-1892del	ENSP00000507042.1:n.413-1894_413-1892del
ENST00000683463.1:c.510_512del	ENSP00000507986.1:p.Gly171del
ENST00000683548.1:n.541_543del
ENST00000683579.1:c.*408_*410del	ENSP00000506867.1:n.*408_*410del
ENST00000683587.1:n.541_543del
ENST00000683681.1:c.510_512del	ENSP00000508110.1:p.Gly171del
ENST00000683735.1:c.*408_*410del	ENSP00000508336.1:n.*408_*410del
ENST00000683853.1:c.510_512del	ENSP00000506834.1:p.Gly171del
ENST00000683860.1:c.510_512del	ENSP00000507179.1:p.Gly171del
ENST00000683884.1:c.510_512del	ENSP00000507004.1:p.Gly171del
ENST00000684041.1:c.510_512del	ENSP00000508382.1:p.Gly171del
ENST00000684125.1:c.510_512del	ENSP00000507320.1:p.Gly171del
ENST00000684203.1:n.2348_2350del
ENST00000684231.1:c.413-1894_413-1892del	ENSP00000507748.1:n.413-1894_413-1892del
ENST00000684263.1:c.510_512del	ENSP00000508369.1:p.Gly171del
ENST00000684305.1:c.958_960del	ENSP00000506819.1:n.958_960del
ENST00000684415.1:c.510_512del	ENSP00000507227.1:p.Gly171del
ENST00000684520.1:c.510_512del	ENSP00000506826.1:p.Gly171del
ENST00000684602.1:c.*237-1894_*237-1892del	ENSP00000507996.1:n.*237-1894_*237-1892de...
ENST00000684667.1:c.841_843del	ENSP00000507003.1:n.841_843del
ENST00000268097.10:c.510_512del MANE Select	ENSP00000268097.6:p.Gly171del
ENST00000268097.9:c.510_512del	ENSP00000268097.5:p.Gly171del
ENST00000379915.4:c.412+2431_412+2433del	ENSP00000478716.1:n.412+2431_412+2433del
ENST00000563762.5:c.504-1894_504-1892del	ENSP00000456346.1:n.504-1894_504-1892del
ENST00000566304.5:c.543_545del	ENSP00000455114.1:p.Gly182del
ENST00000566672.5:c.413-1894_413-1892del	ENSP00000457037.1:n.413-1894_413-1892del
ENST00000567027.5:c.382_384del
ENST00000567159.5:c.510_512del	ENSP00000456489.1:p.Gly171del
ENST00000567411.5:c.*31_*33del	ENSP00000455545.1:n.*31_*33del
ENST00000568260.1:c.511_513del
ENST00000568777.5:n.5914_5916del
ENST00000569410.5:c.510_512del	ENSP00000457125.1:p.Gly171del
ENST00000569509.5:n.418-1894_418-1892del
NM_000520.4:c.510_512del	NP_000511.2:p.Gly171del
NM_000520.5:c.510_512del	NP_000511.2:p.Gly171del
NM_001318825.1:c.543_545del	NP_001305754.1:p.Gly182del
NR_134869.1:n.1011_1013del
NM_000520.6:c.510_512del MANE Select	NP_000511.2:p.Gly171del
NM_001318825.2:c.543_545del	NP_001305754.1:p.Gly182del
NR_134869.2:n.552_554del
NR_134869.3:n.552_554del