Canonical Allele Identifier: CA971331813

Gene: HEXA

Linked Data

• dbSNP Id: rs2088715878
• gnomAD v3: 15-72352680-T-TTTG
• gnomAD v4: 15-72352680-T-TTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72352681_72352682insTGT , CM000677.2:g.72352681_72352682insTGT	GRCh38
NC_000015.9:g.72645022_72645023insTGT , CM000677.1:g.72645022_72645023insTGT	GRCh37
NC_000015.8:g.70432076_70432077insTGT	NCBI36
NG_009017.1:g.28499_28500insCAA
NG_009017.2:g.28499_28500insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.2916+387_2916+388insCAA
ENST00000567027.6:c.570+387_570+388insCAA	ENSP00000457521.2:n.570+387_570+388insCAA
ENST00000568260.2:c.590+387_590+388insCAA	ENSP00000458128.2:n.590+387_590+388insCAA
ENST00000682061.1:c.*232+387_*232+388insCAA	ENSP00000508316.1:n.*232+387_*232+388insCAA
ENST00000682177.1:c.570+387_570+388insCAA	ENSP00000507409.1:n.570+387_570+388insCAA
ENST00000682461.1:c.677-1447_677-1446insCAA	ENSP00000507308.1:n.677-1447_677-1446insCAA
ENST00000682653.1:n.601+387_601+388insCAA
ENST00000682657.1:c.254-1447_254-1446insCAA	ENSP00000507753.1:n.254-1447_254-1446insCAA
ENST00000682721.1:c.*373+387_*373+388insCAA	ENSP00000507535.1:n.*373+387_*373+388insCAA
ENST00000682843.1:c.*468+387_*468+388insCAA	ENSP00000508173.1:n.*468+387_*468+388insCAA
ENST00000683003.1:c.413-1447_413-1446insCAA	ENSP00000507576.1:n.413-1447_413-1446insCAA
ENST00000683133.1:c.754+387_754+388insCAA	ENSP00000508108.1:n.754+387_754+388insCAA
ENST00000683228.1:n.601+387_601+388insCAA
ENST00000683243.1:c.413-1447_413-1446insCAA	ENSP00000507042.1:n.413-1447_413-1446insCAA
ENST00000683463.1:c.570+387_570+388insCAA	ENSP00000507986.1:n.570+387_570+388insCAA
ENST00000683548.1:n.601+387_601+388insCAA
ENST00000683579.1:c.*468+387_*468+388insCAA	ENSP00000506867.1:n.*468+387_*468+388insCAA
ENST00000683587.1:n.601+387_601+388insCAA
ENST00000683681.1:c.570+387_570+388insCAA	ENSP00000508110.1:n.570+387_570+388insCAA
ENST00000683735.1:c.*468+387_*468+388insCAA	ENSP00000508336.1:n.*468+387_*468+388insCAA
ENST00000683853.1:c.570+387_570+388insCAA	ENSP00000506834.1:n.570+387_570+388insCAA
ENST00000683860.1:c.570+387_570+388insCAA	ENSP00000507179.1:n.570+387_570+388insCAA
ENST00000683884.1:c.570+387_570+388insCAA	ENSP00000507004.1:n.570+387_570+388insCAA
ENST00000684041.1:c.570+387_570+388insCAA	ENSP00000508382.1:n.570+387_570+388insCAA
ENST00000684125.1:c.570+387_570+388insCAA	ENSP00000507320.1:n.570+387_570+388insCAA
ENST00000684203.1:n.2408+387_2408+388insCAA
ENST00000684231.1:c.413-1447_413-1446insCAA	ENSP00000507748.1:n.413-1447_413-1446insCAA
ENST00000684263.1:c.570+387_570+388insCAA	ENSP00000508369.1:n.570+387_570+388insCAA
ENST00000684305.1:c.1018+387_1018+388insCAA	ENSP00000506819.1:n.1018+387_1018+388insCAA
ENST00000684415.1:c.570+387_570+388insCAA	ENSP00000507227.1:n.570+387_570+388insCAA
ENST00000684520.1:c.570+387_570+388insCAA	ENSP00000506826.1:n.570+387_570+388insCAA
ENST00000684602.1:c.*237-1447_*237-1446insCAA	ENSP00000507996.1:n.*237-1447_*237-1446insCAA
ENST00000684667.1:c.901+387_901+388insCAA	ENSP00000507003.1:n.901+387_901+388insCAA
ENST00000268097.10:c.570+387_570+388insCAA MANE Select	ENSP00000268097.6:n.570+387_570+388insCAA
ENST00000268097.9:c.570+387_570+388insCAA	ENSP00000268097.5:n.570+387_570+388insCAA
ENST00000379915.4:c.412+2878_412+2879insCAA	ENSP00000478716.1:n.412+2878_412+2879insCAA
ENST00000563762.5:c.504-1447_504-1446insCAA	ENSP00000456346.1:n.504-1447_504-1446insCAA
ENST00000566304.5:c.603+387_603+388insCAA	ENSP00000455114.1:n.603+387_603+388insCAA
ENST00000566672.5:c.413-1447_413-1446insCAA	ENSP00000457037.1:n.413-1447_413-1446insCAA
ENST00000567027.5:c.442+387_442+388insCAA
ENST00000567159.5:c.570+387_570+388insCAA	ENSP00000456489.1:n.570+387_570+388insCAA
ENST00000567411.5:c.*91+387_*91+388insCAA	ENSP00000455545.1:n.*91+387_*91+388insCAA
ENST00000568260.1:c.571+387_571+388insCAA
ENST00000568777.5:n.5974+387_5974+388insCAA
ENST00000569410.5:c.570+387_570+388insCAA	ENSP00000457125.1:n.570+387_570+388insCAA
ENST00000569509.5:n.418-1447_418-1446insCAA
NM_000520.4:c.570+387_570+388insCAA	NP_000511.2:n.570+387_570+388insCAA
NM_000520.5:c.570+387_570+388insCAA	NP_000511.2:n.570+387_570+388insCAA
NM_001318825.1:c.603+387_603+388insCAA	NP_001305754.1:n.603+387_603+388insCAA
NR_134869.1:n.1071+387_1071+388insCAA
NM_000520.6:c.570+387_570+388insCAA MANE Select	NP_000511.2:n.570+387_570+388insCAA
NM_001318825.2:c.603+387_603+388insCAA	NP_001305754.1:n.603+387_603+388insCAA
NR_134869.2:n.612+387_612+388insCAA
NR_134869.3:n.612+387_612+388insCAA