Canonical Allele Identifier: CA2629343496

Gene: HEXA

Linked Data

• gnomAD v4: 15-72348122-TGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348123_72348125del , CM000677.2:g.72348123_72348125del	GRCh38
NC_000015.9:g.72640464_72640466del , CM000677.1:g.72640464_72640466del	GRCh37
NC_000015.8:g.70427518_70427520del	NCBI36
NG_009017.1:g.33055_33057del
NG_009017.2:g.33055_33057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3342_3344del
ENST00000567027.6:c.996_998del	ENSP00000457521.2:p.Asn332_Pro333delinsLys
ENST00000682061.1:c.*658_*660del	ENSP00000508316.1:n.*658_*660del
ENST00000682177.1:c.1039_1041del	ENSP00000507409.1:n.1039_1041del
ENST00000682461.1:c.1102_1104del	ENSP00000507308.1:n.1102_1104del
ENST00000682653.1:n.1027_1029del
ENST00000682657.1:c.*406_*408del	ENSP00000507753.1:n.*406_*408del
ENST00000682721.1:c.*799_*801del	ENSP00000507535.1:n.*799_*801del
ENST00000682843.1:c.*894_*896del	ENSP00000508173.1:n.*894_*896del
ENST00000683003.1:c.*406_*408del	ENSP00000507576.1:n.*406_*408del
ENST00000683133.1:c.1180_1182del	ENSP00000508108.1:n.1180_1182del
ENST00000683228.1:n.1027_1029del
ENST00000683243.1:c.*406_*408del	ENSP00000507042.1:n.*406_*408del
ENST00000683463.1:c.996_998del	ENSP00000507986.1:p.Asn332_Pro333delinsLys
ENST00000683548.1:n.1027_1029del
ENST00000683579.1:c.*894_*896del	ENSP00000506867.1:n.*894_*896del
ENST00000683587.1:n.1027_1029del
ENST00000683681.1:c.996_998del	ENSP00000508110.1:p.Asn332_Pro333delinsLys
ENST00000683735.1:c.*894_*896del	ENSP00000508336.1:n.*894_*896del
ENST00000683742.1:n.827_829del
ENST00000683853.1:c.996_998del	ENSP00000506834.1:p.Asn332_Pro333delinsLys
ENST00000683860.1:c.996_998del	ENSP00000507179.1:p.Asn332_Pro333delinsLys
ENST00000683884.1:c.996_998del	ENSP00000507004.1:p.Asn332_Pro333delinsLys
ENST00000684041.1:c.996_998del	ENSP00000508382.1:p.Asn332_Pro333delinsLys
ENST00000684125.1:c.996_998del	ENSP00000507320.1:p.Asn332_Pro333delinsLys
ENST00000684203.1:n.2834_2836del
ENST00000684231.1:c.*406_*408del	ENSP00000507748.1:n.*406_*408del
ENST00000684263.1:c.996_998del	ENSP00000508369.1:p.Asn332_Pro333delinsLys
ENST00000684305.1:c.1444_1446del	ENSP00000506819.1:n.1444_1446del
ENST00000684415.1:c.996_998del	ENSP00000507227.1:p.Asn332_Pro333delinsLys
ENST00000684520.1:c.996_998del	ENSP00000506826.1:p.Asn332_Pro333delinsLys
ENST00000684602.1:c.*662_*664del	ENSP00000507996.1:n.*662_*664del
ENST00000684667.1:c.1327_1329del	ENSP00000507003.1:n.1327_1329del
ENST00000268097.10:c.996_998del MANE Select	ENSP00000268097.6:p.Asn332_Pro333delinsLys
ENST00000268097.9:c.996_998del	ENSP00000268097.5:p.Asn332_Pro333delinsLys
ENST00000379915.4:c.413-1800_413-1798del	ENSP00000478716.1:n.413-1800_413-1798del
ENST00000563762.5:c.748_750del	ENSP00000456346.1:n.748_750del
ENST00000566304.5:c.1029_1031del	ENSP00000455114.1:p.Asn343_Pro344delinsLys
ENST00000566672.5:c.*406_*408del	ENSP00000457037.1:n.*406_*408del
ENST00000567027.5:c.868_870del
ENST00000567159.5:c.996_998del	ENSP00000456489.1:p.Asn332_Pro333delinsLys
ENST00000567411.5:c.*517_*519del	ENSP00000455545.1:n.*517_*519del
ENST00000568777.5:n.6400_6402del
ENST00000569410.5:c.996_998del	ENSP00000457125.1:p.Asn332_Pro333delinsLys
NM_000520.4:c.996_998del	NP_000511.2:p.Asn332_Pro333delinsLys
NM_000520.5:c.996_998del	NP_000511.2:p.Asn332_Pro333delinsLys
NM_001318825.1:c.1029_1031del	NP_001305754.1:p.Asn343_Pro344delinsLys
NR_134869.1:n.1497_1499del
NM_000520.6:c.996_998del MANE Select	NP_000511.2:p.Asn332_Pro333delinsLys
NM_001318825.2:c.1029_1031del	NP_001305754.1:p.Asn343_Pro344delinsLys
NR_134869.2:n.1038_1040del
NR_134869.3:n.1038_1040del