Canonical Allele Identifier: CA715465995

Gene: HEXA

Linked Data

• dbSNP Id: rs1227347879
• MyVariant Identifiers: chr15:g.72641313_72641314del (hg19) ; chr15:g.72348972_72348973del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348973_72348974del , CM000677.2:g.72348973_72348974del	GRCh38
NC_000015.9:g.72641314_72641315del , CM000677.1:g.72641314_72641315del	GRCh37
NC_000015.8:g.70428368_70428369del	NCBI36
NG_009017.1:g.32207_32208del
NG_009017.2:g.32207_32208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3332+106_3332+107del
ENST00000567027.6:c.986+106_986+107del	ENSP00000457521.2:n.986+106_986+107del
ENST00000682061.1:c.*648+106_*648+107del	ENSP00000508316.1:n.*648+106_*648+107del
ENST00000682177.1:c.1029+106_1029+107del	ENSP00000507409.1:n.1029+106_1029+107del
ENST00000682461.1:c.1092+106_1092+107del	ENSP00000507308.1:n.1092+106_1092+107del
ENST00000682653.1:n.1017+106_1017+107del
ENST00000682657.1:c.*396+106_*396+107del	ENSP00000507753.1:n.*396+106_*396+107del
ENST00000682721.1:c.*789+106_*789+107del	ENSP00000507535.1:n.*789+106_*789+107del
ENST00000682843.1:c.*884+106_*884+107del	ENSP00000508173.1:n.*884+106_*884+107del
ENST00000683003.1:c.*396+106_*396+107del	ENSP00000507576.1:n.*396+106_*396+107del
ENST00000683133.1:c.1170+106_1170+107del	ENSP00000508108.1:n.1170+106_1170+107del
ENST00000683228.1:n.1017+106_1017+107del
ENST00000683243.1:c.*396+106_*396+107del	ENSP00000507042.1:n.*396+106_*396+107del
ENST00000683463.1:c.986+106_986+107del	ENSP00000507986.1:n.986+106_986+107del
ENST00000683548.1:n.1017+106_1017+107del
ENST00000683579.1:c.*884+106_*884+107del	ENSP00000506867.1:n.*884+106_*884+107del
ENST00000683587.1:n.1017+106_1017+107del
ENST00000683681.1:c.986+106_986+107del	ENSP00000508110.1:n.986+106_986+107del
ENST00000683735.1:c.*884+106_*884+107del	ENSP00000508336.1:n.*884+106_*884+107del
ENST00000683742.1:n.817+106_817+107del
ENST00000683853.1:c.986+106_986+107del	ENSP00000506834.1:n.986+106_986+107del
ENST00000683860.1:c.986+106_986+107del	ENSP00000507179.1:n.986+106_986+107del
ENST00000683884.1:c.986+106_986+107del	ENSP00000507004.1:n.986+106_986+107del
ENST00000684041.1:c.986+106_986+107del	ENSP00000508382.1:n.986+106_986+107del
ENST00000684125.1:c.986+106_986+107del	ENSP00000507320.1:n.986+106_986+107del
ENST00000684203.1:n.2824+106_2824+107del
ENST00000684231.1:c.*396+106_*396+107del	ENSP00000507748.1:n.*396+106_*396+107del
ENST00000684263.1:c.986+106_986+107del	ENSP00000508369.1:n.986+106_986+107del
ENST00000684305.1:c.1434+106_1434+107del	ENSP00000506819.1:n.1434+106_1434+107del
ENST00000684415.1:c.986+106_986+107del	ENSP00000507227.1:n.986+106_986+107del
ENST00000684520.1:c.986+106_986+107del	ENSP00000506826.1:n.986+106_986+107del
ENST00000684602.1:c.*652+106_*652+107del	ENSP00000507996.1:n.*652+106_*652+107del
ENST00000684667.1:c.1317+106_1317+107del	ENSP00000507003.1:n.1317+106_1317+107del
ENST00000268097.10:c.986+106_986+107del MANE Select	ENSP00000268097.6:n.986+106_986+107del
ENST00000268097.9:c.986+106_986+107del	ENSP00000268097.5:n.986+106_986+107del
ENST00000379915.4:c.413-2648_413-2647del	ENSP00000478716.1:n.413-2648_413-2647del
ENST00000563762.5:c.739-839_739-838del	ENSP00000456346.1:n.739-839_739-838del
ENST00000566304.5:c.1019+106_1019+107del	ENSP00000455114.1:n.1019+106_1019+107del
ENST00000566672.5:c.*396+106_*396+107del	ENSP00000457037.1:n.*396+106_*396+107del
ENST00000567027.5:c.858+106_858+107del
ENST00000567159.5:c.986+106_986+107del	ENSP00000456489.1:n.986+106_986+107del
ENST00000567411.5:c.*507+106_*507+107del	ENSP00000455545.1:n.*507+106_*507+107del
ENST00000568777.5:n.6390+106_6390+107del
ENST00000569410.5:c.986+106_986+107del	ENSP00000457125.1:n.986+106_986+107del
NM_000520.4:c.986+106_986+107del	NP_000511.2:n.986+106_986+107del
NM_000520.5:c.986+106_986+107del	NP_000511.2:n.986+106_986+107del
NM_001318825.1:c.1019+106_1019+107del	NP_001305754.1:n.1019+106_1019+107del
NR_134869.1:n.1487+106_1487+107del
NM_000520.6:c.986+106_986+107del MANE Select	NP_000511.2:n.986+106_986+107del
NM_001318825.2:c.1019+106_1019+107del	NP_001305754.1:n.1019+106_1019+107del
NR_134869.2:n.1028+106_1028+107del
NR_134869.3:n.1028+106_1028+107del