Canonical Allele Identifier: CA2508906054

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72370503_72370504insG , CM000677.2:g.72370503_72370504insG	GRCh38
NC_000015.9:g.72662844_72662845insG , CM000677.1:g.72662844_72662845insG	GRCh37
NC_000015.8:g.70449898_70449899insG	NCBI36
NG_009017.1:g.10676_10677insC
NG_009017.2:g.10676_10677insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.266+5216_266+5217insC
ENST00000567027.6:c.253+5216_253+5217insC	ENSP00000457521.2:n.253+5216_253+5217insC
ENST00000568260.2:c.253+5216_253+5217insC	ENSP00000458128.2:n.253+5216_253+5217insC
ENST00000682061.1:c.253+5216_253+5217insC	ENSP00000508316.1:n.253+5216_253+5217insC
ENST00000682177.1:c.253+5216_253+5217insC	ENSP00000507409.1:n.253+5216_253+5217insC
ENST00000682461.1:c.444_445insC	ENSP00000507308.1:n.444_445insC
ENST00000682653.1:n.284+5216_284+5217insC
ENST00000682657.1:c.253+5216_253+5217insC	ENSP00000507753.1:n.253+5216_253+5217insC
ENST00000682721.1:c.274_275insC	ENSP00000507535.1:p.Cys92SerfsTer?
ENST00000682843.1:c.*78_*79insC	ENSP00000508173.1:n.*78_*79insC
ENST00000683003.1:c.253+5216_253+5217insC	ENSP00000507576.1:n.253+5216_253+5217insC
ENST00000683133.1:c.253+5216_253+5217insC	ENSP00000508108.1:n.253+5216_253+5217insC
ENST00000683228.1:n.284+5216_284+5217insC
ENST00000683243.1:c.253+5216_253+5217insC	ENSP00000507042.1:n.253+5216_253+5217insC
ENST00000683463.1:c.253+5216_253+5217insC	ENSP00000507986.1:n.253+5216_253+5217insC
ENST00000683548.1:n.284+5216_284+5217insC
ENST00000683579.1:c.*78_*79insC	ENSP00000506867.1:n.*78_*79insC
ENST00000683587.1:n.284+5216_284+5217insC
ENST00000683681.1:c.253+5216_253+5217insC	ENSP00000508110.1:n.253+5216_253+5217insC
ENST00000683735.1:c.*78_*79insC	ENSP00000508336.1:n.*78_*79insC
ENST00000683853.1:c.253+5216_253+5217insC	ENSP00000506834.1:n.253+5216_253+5217insC
ENST00000683860.1:c.253+5216_253+5217insC	ENSP00000507179.1:n.253+5216_253+5217insC
ENST00000683884.1:c.253+5216_253+5217insC	ENSP00000507004.1:n.253+5216_253+5217insC
ENST00000684041.1:c.253+5216_253+5217insC	ENSP00000508382.1:n.253+5216_253+5217insC
ENST00000684125.1:c.253+5216_253+5217insC	ENSP00000507320.1:n.253+5216_253+5217insC
ENST00000684203.1:n.270+5216_270+5217insC
ENST00000684231.1:c.253+5216_253+5217insC	ENSP00000507748.1:n.253+5216_253+5217insC
ENST00000684263.1:c.253+5216_253+5217insC	ENSP00000508369.1:n.253+5216_253+5217insC
ENST00000684305.1:c.444_445insC	ENSP00000506819.1:n.444_445insC
ENST00000684415.1:c.253+5216_253+5217insC	ENSP00000507227.1:n.253+5216_253+5217insC
ENST00000684520.1:c.253+5216_253+5217insC	ENSP00000506826.1:n.253+5216_253+5217insC
ENST00000684602.1:c.253+5216_253+5217insC	ENSP00000507996.1:n.253+5216_253+5217insC
ENST00000684667.1:c.444_445insC	ENSP00000507003.1:n.444_445insC
ENST00000268097.10:c.253+5216_253+5217insC MANE Select	ENSP00000268097.6:n.253+5216_253+5217insC
ENST00000268097.9:c.253+5216_253+5217insC	ENSP00000268097.5:n.253+5216_253+5217insC
ENST00000379915.4:c.253+5216_253+5217insC	ENSP00000478716.1:n.253+5216_253+5217insC
ENST00000563762.5:c.253+5216_253+5217insC	ENSP00000456346.1:n.253+5216_253+5217insC
ENST00000563908.1:n.250+5216_250+5217insC
ENST00000566304.5:c.253+5216_253+5217insC	ENSP00000455114.1:n.253+5216_253+5217insC
ENST00000566672.5:c.253+5216_253+5217insC	ENSP00000457037.1:n.253+5216_253+5217insC
ENST00000567027.5:c.125+5216_125+5217insC
ENST00000567159.5:c.253+5216_253+5217insC	ENSP00000456489.1:n.253+5216_253+5217insC
ENST00000567213.2:c.*78_*79insC	ENSP00000478217.1:n.*78_*79insC
ENST00000567411.5:c.253+5216_253+5217insC	ENSP00000455545.1:n.253+5216_253+5217insC
ENST00000568260.1:c.234+5216_234+5217insC
ENST00000569410.5:c.253+5216_253+5217insC	ENSP00000457125.1:n.253+5216_253+5217insC
ENST00000569509.5:n.258+5216_258+5217insC
NM_000520.4:c.253+5216_253+5217insC	NP_000511.2:n.253+5216_253+5217insC
NM_000520.5:c.253+5216_253+5217insC	NP_000511.2:n.253+5216_253+5217insC
NM_001318825.1:c.253+5216_253+5217insC	NP_001305754.1:n.253+5216_253+5217insC
NR_134869.1:n.754+5216_754+5217insC
NM_000520.6:c.253+5216_253+5217insC MANE Select	NP_000511.2:n.253+5216_253+5217insC
NM_001318825.2:c.253+5216_253+5217insC	NP_001305754.1:n.253+5216_253+5217insC
NR_134869.2:n.295+5216_295+5217insC
NR_134869.3:n.295+5216_295+5217insC