Canonical Allele Identifier: CA2186746733

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353698_72353701delinsTCAG , CM000677.2:g.72353698_72353701delinsTCAG	GRCh38
NC_000015.9:g.72646039_72646042delinsTCAG , CM000677.1:g.72646039_72646042delinsTCAG	GRCh37
NC_000015.8:g.70433093_70433096delinsTCAG	NCBI36
NG_009017.1:g.27479_27482delinsCTGA
NG_009017.2:g.27479_27482delinsCTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2283_2286delinsCTGA
ENST00000567027.6:c.449_452delinsCTGA	ENSP00000457521.2:p.Ala150=
ENST00000568260.2:c.480-523_480-520delinsCTGA	ENSP00000458128.2:n.480-523_480-520delins...
ENST00000682061.1:c.*111_*114delinsCTGA	ENSP00000508316.1:n.*111_*114delinsCTGA
ENST00000682177.1:c.449_452delinsCTGA	ENSP00000507409.1:p.Ala150=
ENST00000682461.1:c.676+1858_676+1861delinsCTGA	ENSP00000507308.1:n.676+1858_676+1861deli...
ENST00000682653.1:n.480_483delinsCTGA
ENST00000682657.1:c.254-2467_254-2464delinsCTGA	ENSP00000507753.1:n.254-2467_254-2464deli...
ENST00000682721.1:c.*252_*255delinsCTGA	ENSP00000507535.1:n.*252_*255delinsCTGA
ENST00000682843.1:c.*347_*350delinsCTGA	ENSP00000508173.1:n.*347_*350delinsCTGA
ENST00000683003.1:c.412+1858_412+1861delinsCTGA	ENSP00000507576.1:n.412+1858_412+1861deli...
ENST00000683133.1:c.633_636delinsCTGA	ENSP00000508108.1:n.633_636delinsCTGA
ENST00000683228.1:n.480_483delinsCTGA
ENST00000683243.1:c.412+1858_412+1861delinsCTGA	ENSP00000507042.1:n.412+1858_412+1861deli...
ENST00000683463.1:c.449_452delinsCTGA	ENSP00000507986.1:p.Ala150=
ENST00000683548.1:n.480_483delinsCTGA
ENST00000683579.1:c.*347_*350delinsCTGA	ENSP00000506867.1:n.*347_*350delinsCTGA
ENST00000683587.1:n.480_483delinsCTGA
ENST00000683681.1:c.449_452delinsCTGA	ENSP00000508110.1:p.Ala150=
ENST00000683735.1:c.*347_*350delinsCTGA	ENSP00000508336.1:n.*347_*350delinsCTGA
ENST00000683853.1:c.449_452delinsCTGA	ENSP00000506834.1:p.Ala150=
ENST00000683860.1:c.449_452delinsCTGA	ENSP00000507179.1:p.Ala150=
ENST00000683884.1:c.449_452delinsCTGA	ENSP00000507004.1:p.Ala150=
ENST00000684041.1:c.449_452delinsCTGA	ENSP00000508382.1:p.Ala150=
ENST00000684125.1:c.449_452delinsCTGA	ENSP00000507320.1:p.Ala150=
ENST00000684203.1:n.2287_2290delinsCTGA
ENST00000684231.1:c.412+1858_412+1861delinsCTGA	ENSP00000507748.1:n.412+1858_412+1861deli...
ENST00000684263.1:c.449_452delinsCTGA	ENSP00000508369.1:p.Ala150=
ENST00000684305.1:c.897_900delinsCTGA	ENSP00000506819.1:n.897_900delinsCTGA
ENST00000684415.1:c.449_452delinsCTGA	ENSP00000507227.1:p.Ala150=
ENST00000684520.1:c.449_452delinsCTGA	ENSP00000506826.1:p.Ala150=
ENST00000684602.1:c.*236+1858_*236+1861delinsCTGA	ENSP00000507996.1:n.*236+1858_*236+1861de...
ENST00000684667.1:c.780_783delinsCTGA	ENSP00000507003.1:n.780_783delinsCTGA
ENST00000268097.10:c.449_452delinsCTGA MANE Select	ENSP00000268097.6:p.Ala150=
ENST00000268097.9:c.449_452delinsCTGA	ENSP00000268097.5:p.Ala150=
ENST00000379915.4:c.412+1858_412+1861delinsCTGA	ENSP00000478716.1:n.412+1858_412+1861deli...
ENST00000563762.5:c.503+1858_503+1861delinsCTGA	ENSP00000456346.1:n.503+1858_503+1861deli...
ENST00000566304.5:c.482_485delinsCTGA	ENSP00000455114.1:p.Ala161=
ENST00000566672.5:c.412+1858_412+1861delinsCTGA	ENSP00000457037.1:n.412+1858_412+1861deli...
ENST00000567027.5:c.321_324delinsCTGA
ENST00000567159.5:c.449_452delinsCTGA	ENSP00000456489.1:p.Ala150=
ENST00000567411.5:c.413-523_413-520delinsCTGA	ENSP00000455545.1:n.413-523_413-520delins...
ENST00000568260.1:c.461-523_461-520delinsCTGA
ENST00000568777.5:n.5853_5856delinsCTGA
ENST00000569410.5:c.449_452delinsCTGA	ENSP00000457125.1:p.Ala150=
ENST00000569509.5:n.417+1858_417+1861delinsCTGA
NM_000520.4:c.449_452delinsCTGA	NP_000511.2:p.Ala150=
NM_000520.5:c.449_452delinsCTGA	NP_000511.2:p.Ala150=
NM_001318825.1:c.482_485delinsCTGA	NP_001305754.1:p.Ala161=
NR_134869.1:n.950_953delinsCTGA
NM_000520.6:c.449_452delinsCTGA MANE Select	NP_000511.2:p.Ala150=
NM_001318825.2:c.482_485delinsCTGA	NP_001305754.1:p.Ala161=
NR_134869.2:n.491_494delinsCTGA
NR_134869.3:n.491_494delinsCTGA