Canonical Allele Identifier: CA2186744859

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72349134_72349136delinsCAG , CM000677.2:g.72349134_72349136delinsCAG	GRCh38
NC_000015.9:g.72641475_72641477delinsCAG , CM000677.1:g.72641475_72641477delinsCAG	GRCh37
NC_000015.8:g.70428529_70428531delinsCAG	NCBI36
NG_009017.1:g.32044_32046delinsCTG
NG_009017.2:g.32044_32046delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3275_3277delinsCTG
ENST00000567027.6:c.929_931delinsCTG	ENSP00000457521.2:p.Ser310=
ENST00000682061.1:c.*591_*593delinsCTG	ENSP00000508316.1:n.*591_*593delinsCTG
ENST00000682177.1:c.972_974delinsCTG	ENSP00000507409.1:n.972_974delinsCTG
ENST00000682461.1:c.1035_1037delinsCTG	ENSP00000507308.1:n.1035_1037delinsCTG
ENST00000682653.1:n.960_962delinsCTG
ENST00000682657.1:c.*339_*341delinsCTG	ENSP00000507753.1:n.*339_*341delinsCTG
ENST00000682721.1:c.*732_*734delinsCTG	ENSP00000507535.1:n.*732_*734delinsCTG
ENST00000682843.1:c.*827_*829delinsCTG	ENSP00000508173.1:n.*827_*829delinsCTG
ENST00000683003.1:c.*339_*341delinsCTG	ENSP00000507576.1:n.*339_*341delinsCTG
ENST00000683133.1:c.1113_1115delinsCTG	ENSP00000508108.1:n.1113_1115delinsCTG
ENST00000683228.1:n.960_962delinsCTG
ENST00000683243.1:c.*339_*341delinsCTG	ENSP00000507042.1:n.*339_*341delinsCTG
ENST00000683463.1:c.929_931delinsCTG	ENSP00000507986.1:p.Ser310=
ENST00000683548.1:n.960_962delinsCTG
ENST00000683579.1:c.*827_*829delinsCTG	ENSP00000506867.1:n.*827_*829delinsCTG
ENST00000683587.1:n.960_962delinsCTG
ENST00000683681.1:c.929_931delinsCTG	ENSP00000508110.1:p.Ser310=
ENST00000683735.1:c.*827_*829delinsCTG	ENSP00000508336.1:n.*827_*829delinsCTG
ENST00000683742.1:n.760_762delinsCTG
ENST00000683853.1:c.929_931delinsCTG	ENSP00000506834.1:p.Ser310=
ENST00000683860.1:c.929_931delinsCTG	ENSP00000507179.1:p.Ser310=
ENST00000683884.1:c.929_931delinsCTG	ENSP00000507004.1:p.Ser310=
ENST00000684041.1:c.929_931delinsCTG	ENSP00000508382.1:p.Ser310=
ENST00000684125.1:c.929_931delinsCTG	ENSP00000507320.1:p.Ser310=
ENST00000684203.1:n.2767_2769delinsCTG
ENST00000684231.1:c.*339_*341delinsCTG	ENSP00000507748.1:n.*339_*341delinsCTG
ENST00000684263.1:c.929_931delinsCTG	ENSP00000508369.1:p.Ser310=
ENST00000684305.1:c.1377_1379delinsCTG	ENSP00000506819.1:n.1377_1379delinsCTG
ENST00000684415.1:c.929_931delinsCTG	ENSP00000507227.1:p.Ser310=
ENST00000684520.1:c.929_931delinsCTG	ENSP00000506826.1:p.Ser310=
ENST00000684602.1:c.*595_*597delinsCTG	ENSP00000507996.1:n.*595_*597delinsCTG
ENST00000684667.1:c.1260_1262delinsCTG	ENSP00000507003.1:n.1260_1262delinsCTG
ENST00000268097.10:c.929_931delinsCTG MANE Select	ENSP00000268097.6:p.Ser310=
ENST00000268097.9:c.929_931delinsCTG	ENSP00000268097.5:p.Ser310=
ENST00000379915.4:c.413-2811_413-2809delinsCTG	ENSP00000478716.1:n.413-2811_413-2809delinsCTG
ENST00000563762.5:c.739-1002_739-1000delinsCTG	ENSP00000456346.1:n.739-1002_739-1000delinsCTG
ENST00000566304.5:c.962_964delinsCTG	ENSP00000455114.1:p.Ser321=
ENST00000566672.5:c.*339_*341delinsCTG	ENSP00000457037.1:n.*339_*341delinsCTG
ENST00000567027.5:c.801_803delinsCTG
ENST00000567159.5:c.929_931delinsCTG	ENSP00000456489.1:p.Ser310=
ENST00000567411.5:c.*450_*452delinsCTG	ENSP00000455545.1:n.*450_*452delinsCTG
ENST00000568777.5:n.6333_6335delinsCTG
ENST00000569410.5:c.929_931delinsCTG	ENSP00000457125.1:p.Ser310=
NM_000520.4:c.929_931delinsCTG	NP_000511.2:p.Ser310=
NM_000520.5:c.929_931delinsCTG	NP_000511.2:p.Ser310=
NM_001318825.1:c.962_964delinsCTG	NP_001305754.1:p.Ser321=
NR_134869.1:n.1430_1432delinsCTG
NM_000520.6:c.929_931delinsCTG MANE Select	NP_000511.2:p.Ser310=
NM_001318825.2:c.962_964delinsCTG	NP_001305754.1:p.Ser321=
NR_134869.2:n.971_973delinsCTG
NR_134869.3:n.971_973delinsCTG