Canonical Allele Identifier: CA2186745287

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350096_72350097delinsCT , CM000677.2:g.72350096_72350097delinsCT	GRCh38
NC_000015.9:g.72642437_72642438delinsCT , CM000677.1:g.72642437_72642438delinsCT	GRCh37
NC_000015.8:g.70429491_70429492delinsCT	NCBI36
NG_009017.1:g.31083_31084delinsAG
NG_009017.2:g.31083_31084delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3151+421_3151+422delinsAG
ENST00000567027.6:c.805+421_805+422delinsAG	ENSP00000457521.2:n.805+421_805+422delinsAG
ENST00000682061.1:c.*467+421_*467+422delinsAG	ENSP00000508316.1:n.*467+421_*467+422delinsAG
ENST00000682177.1:c.848+421_848+422delinsAG	ENSP00000507409.1:n.848+421_848+422delinsAG
ENST00000682461.1:c.911+421_911+422delinsAG	ENSP00000507308.1:n.911+421_911+422delinsAG
ENST00000682653.1:n.836+421_836+422delinsAG
ENST00000682657.1:c.*215+421_*215+422delinsAG	ENSP00000507753.1:n.*215+421_*215+422delinsAG
ENST00000682721.1:c.*608+421_*608+422delinsAG	ENSP00000507535.1:n.*608+421_*608+422delinsAG
ENST00000682843.1:c.*703+421_*703+422delinsAG	ENSP00000508173.1:n.*703+421_*703+422delinsAG
ENST00000683003.1:c.*215+421_*215+422delinsAG	ENSP00000507576.1:n.*215+421_*215+422delinsAG
ENST00000683133.1:c.989+421_989+422delinsAG	ENSP00000508108.1:n.989+421_989+422delinsAG
ENST00000683228.1:n.836+421_836+422delinsAG
ENST00000683243.1:c.*215+421_*215+422delinsAG	ENSP00000507042.1:n.*215+421_*215+422delinsAG
ENST00000683463.1:c.805+421_805+422delinsAG	ENSP00000507986.1:n.805+421_805+422delinsAG
ENST00000683548.1:n.836+421_836+422delinsAG
ENST00000683579.1:c.*703+421_*703+422delinsAG	ENSP00000506867.1:n.*703+421_*703+422delinsAG
ENST00000683587.1:n.836+421_836+422delinsAG
ENST00000683681.1:c.805+421_805+422delinsAG	ENSP00000508110.1:n.805+421_805+422delinsAG
ENST00000683735.1:c.*703+421_*703+422delinsAG	ENSP00000508336.1:n.*703+421_*703+422delinsAG
ENST00000683742.1:n.636+421_636+422delinsAG
ENST00000683853.1:c.805+421_805+422delinsAG	ENSP00000506834.1:n.805+421_805+422delinsAG
ENST00000683860.1:c.805+421_805+422delinsAG	ENSP00000507179.1:n.805+421_805+422delinsAG
ENST00000683884.1:c.805+421_805+422delinsAG	ENSP00000507004.1:n.805+421_805+422delinsAG
ENST00000684041.1:c.805+421_805+422delinsAG	ENSP00000508382.1:n.805+421_805+422delinsAG
ENST00000684125.1:c.805+421_805+422delinsAG	ENSP00000507320.1:n.805+421_805+422delinsAG
ENST00000684203.1:n.2643+421_2643+422delinsAG
ENST00000684231.1:c.*215+421_*215+422delinsAG	ENSP00000507748.1:n.*215+421_*215+422delinsAG
ENST00000684263.1:c.805+421_805+422delinsAG	ENSP00000508369.1:n.805+421_805+422delinsAG
ENST00000684305.1:c.1253+421_1253+422delinsAG	ENSP00000506819.1:n.1253+421_1253+422delinsAG
ENST00000684415.1:c.805+421_805+422delinsAG	ENSP00000507227.1:n.805+421_805+422delinsAG
ENST00000684520.1:c.805+421_805+422delinsAG	ENSP00000506826.1:n.805+421_805+422delinsAG
ENST00000684602.1:c.*471+421_*471+422delinsAG	ENSP00000507996.1:n.*471+421_*471+422delinsAG
ENST00000684667.1:c.1136+421_1136+422delinsAG	ENSP00000507003.1:n.1136+421_1136+422delinsAG
ENST00000268097.10:c.805+421_805+422delinsAG MANE Select	ENSP00000268097.6:n.805+421_805+422delinsAG
ENST00000268097.9:c.805+421_805+422delinsAG	ENSP00000268097.5:n.805+421_805+422delinsAG
ENST00000379915.4:c.413-3772_413-3771delinsAG	ENSP00000478716.1:n.413-3772_413-3771delinsAG
ENST00000563762.5:c.738+421_738+422delinsAG	ENSP00000456346.1:n.738+421_738+422delinsAG
ENST00000566304.5:c.838+421_838+422delinsAG	ENSP00000455114.1:n.838+421_838+422delinsAG
ENST00000566672.5:c.*215+421_*215+422delinsAG	ENSP00000457037.1:n.*215+421_*215+422delinsAG
ENST00000567027.5:c.677+421_677+422delinsAG
ENST00000567159.5:c.805+421_805+422delinsAG	ENSP00000456489.1:n.805+421_805+422delinsAG
ENST00000567411.5:c.*326+421_*326+422delinsAG	ENSP00000455545.1:n.*326+421_*326+422delinsAG
ENST00000568777.5:n.6209+421_6209+422delinsAG
ENST00000569410.5:c.805+421_805+422delinsAG	ENSP00000457125.1:n.805+421_805+422delinsAG
NM_000520.4:c.805+421_805+422delinsAG	NP_000511.2:n.805+421_805+422delinsAG
NM_000520.5:c.805+421_805+422delinsAG	NP_000511.2:n.805+421_805+422delinsAG
NM_001318825.1:c.838+421_838+422delinsAG	NP_001305754.1:n.838+421_838+422delinsAG
NR_134869.1:n.1306+421_1306+422delinsAG
NM_000520.6:c.805+421_805+422delinsAG MANE Select	NP_000511.2:n.805+421_805+422delinsAG
NM_001318825.2:c.838+421_838+422delinsAG	NP_001305754.1:n.838+421_838+422delinsAG
NR_134869.2:n.847+421_847+422delinsAG
NR_134869.3:n.847+421_847+422delinsAG