Canonical Allele Identifier: CA2629343365

Gene: HEXA

Linked Data

• gnomAD v4: 15-72348064-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348064_72348065insG , CM000677.2:g.72348064_72348065insG	GRCh38
NC_000015.9:g.72640405_72640406insG , CM000677.1:g.72640405_72640406insG	GRCh37
NC_000015.8:g.70427459_70427460insG	NCBI36
NG_009017.1:g.33115_33116insC
NG_009017.2:g.33115_33116insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3402_3403insC
ENST00000567027.6:c.1056_1057insC	ENSP00000457521.2:p.Ser353LeufsTer15
ENST00000682061.1:c.*718_*719insC	ENSP00000508316.1:n.*718_*719insC
ENST00000682177.1:c.1099_1100insC	ENSP00000507409.1:n.1099_1100insC
ENST00000682461.1:c.1162_1163insC	ENSP00000507308.1:n.1162_1163insC
ENST00000682653.1:n.1087_1088insC
ENST00000682657.1:c.*466_*467insC	ENSP00000507753.1:n.*466_*467insC
ENST00000682721.1:c.*859_*860insC	ENSP00000507535.1:n.*859_*860insC
ENST00000682843.1:c.*954_*955insC	ENSP00000508173.1:n.*954_*955insC
ENST00000683003.1:c.*466_*467insC	ENSP00000507576.1:n.*466_*467insC
ENST00000683133.1:c.1240_1241insC	ENSP00000508108.1:n.1240_1241insC
ENST00000683228.1:n.1087_1088insC
ENST00000683243.1:c.*466_*467insC	ENSP00000507042.1:n.*466_*467insC
ENST00000683463.1:c.1056_1057insC	ENSP00000507986.1:p.Ser353LeufsTer?
ENST00000683548.1:n.1087_1088insC
ENST00000683579.1:c.*954_*955insC	ENSP00000506867.1:n.*954_*955insC
ENST00000683587.1:n.1087_1088insC
ENST00000683681.1:c.1056_1057insC	ENSP00000508110.1:p.Ser353LeufsTer26
ENST00000683735.1:c.*954_*955insC	ENSP00000508336.1:n.*954_*955insC
ENST00000683742.1:n.887_888insC
ENST00000683853.1:c.1056_1057insC	ENSP00000506834.1:p.Ser353LeufsTer?
ENST00000683860.1:c.1056_1057insC	ENSP00000507179.1:p.Ser353LeufsTer26
ENST00000683884.1:c.1056_1057insC	ENSP00000507004.1:p.Ser353LeufsTer26
ENST00000684041.1:c.1056_1057insC	ENSP00000508382.1:p.Ser353LeufsTer26
ENST00000684125.1:c.1056_1057insC	ENSP00000507320.1:p.Ser353LeufsTer15
ENST00000684203.1:n.2894_2895insC
ENST00000684231.1:c.*466_*467insC	ENSP00000507748.1:n.*466_*467insC
ENST00000684263.1:c.1056_1057insC	ENSP00000508369.1:p.Ser353LeufsTer?
ENST00000684305.1:c.1504_1505insC	ENSP00000506819.1:n.1504_1505insC
ENST00000684415.1:c.1056_1057insC	ENSP00000507227.1:p.Ser353LeufsTer28
ENST00000684520.1:c.1056_1057insC	ENSP00000506826.1:p.Ser353LeufsTer26
ENST00000684602.1:c.*722_*723insC	ENSP00000507996.1:n.*722_*723insC
ENST00000684667.1:c.1387_1388insC	ENSP00000507003.1:n.1387_1388insC
ENST00000268097.10:c.1056_1057insC MANE Select	ENSP00000268097.6:p.Ser353LeufsTer26
ENST00000268097.9:c.1056_1057insC	ENSP00000268097.5:p.Ser353LeufsTer26
ENST00000379915.4:c.413-1740_413-1739insC	ENSP00000478716.1:n.413-1740_413-1739insC...
ENST00000563762.5:c.808_809insC	ENSP00000456346.1:n.808_809insC
ENST00000566304.5:c.1089_1090insC	ENSP00000455114.1:p.Ser364LeufsTer26
ENST00000566672.5:c.*466_*467insC	ENSP00000457037.1:n.*466_*467insC
ENST00000567027.5:c.928_929insC
ENST00000567159.5:c.1056_1057insC	ENSP00000456489.1:p.Ser353LeufsTer26
ENST00000567411.5:c.*577_*578insC	ENSP00000455545.1:n.*577_*578insC
ENST00000568777.5:n.6460_6461insC
ENST00000569410.5:c.1056_1057insC	ENSP00000457125.1:p.Ser353LeufsTer?
NM_000520.4:c.1056_1057insC	NP_000511.2:p.Ser353LeufsTer26
NM_000520.5:c.1056_1057insC	NP_000511.2:p.Ser353LeufsTer26
NM_001318825.1:c.1089_1090insC	NP_001305754.1:p.Ser364LeufsTer26
NR_134869.1:n.1557_1558insC
NM_000520.6:c.1056_1057insC MANE Select	NP_000511.2:p.Ser353LeufsTer26
NM_001318825.2:c.1089_1090insC	NP_001305754.1:p.Ser364LeufsTer26
NR_134869.2:n.1098_1099insC
NR_134869.3:n.1098_1099insC