Canonical Allele Identifier: CA2629340432

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345945-GCTGGGTCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345946_72345954del , CM000677.2:g.72345946_72345954del	GRCh38
NC_000015.9:g.72638287_72638295del , CM000677.1:g.72638287_72638295del	GRCh37
NC_000015.8:g.70425341_70425349del	NCBI36
NG_009017.1:g.35226_35234del
NG_009017.2:g.35226_35234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*81+281_*81+289del	ENSP00000457521.2:n.*81+281_*81+289del
ENST00000682061.1:c.*1364_*1372del	ENSP00000508316.1:n.*1364_*1372del
ENST00000682064.1:n.1245_1253del
ENST00000682177.1:c.1464+281_1464+289del	ENSP00000507409.1:n.1464+281_1464+289del
ENST00000682235.1:n.1041_1049del
ENST00000682461.1:c.1527+281_1527+289del	ENSP00000507308.1:n.1527+281_1527+289del
ENST00000682653.1:n.2022_2030del
ENST00000682657.1:c.*855_*863del	ENSP00000507753.1:n.*855_*863del
ENST00000682721.1:c.*1224+281_*1224+289del	ENSP00000507535.1:n.*1224+281_*1224+289del
ENST00000682843.1:c.*1062+281_*1062+289del	ENSP00000508173.1:n.*1062+281_*1062+289del
ENST00000683003.1:c.*855_*863del	ENSP00000507576.1:n.*855_*863del
ENST00000683133.1:c.1605+281_1605+289del	ENSP00000508108.1:n.1605+281_1605+289del
ENST00000683243.1:c.*574+281_*574+289del	ENSP00000507042.1:n.*574+281_*574+289del
ENST00000683463.1:c.*507_*515del	ENSP00000507986.1:n.*507_*515del
ENST00000683548.1:n.1476_1484del
ENST00000683579.1:c.*1319+281_*1319+289del	ENSP00000506867.1:n.*1319+281_*1319+289del
ENST00000683587.1:n.1549_1557del
ENST00000683681.1:c.1422-178_1422-170del	ENSP00000508110.1:n.1422-178_1422-170del
ENST00000683735.1:c.*1416_*1424del	ENSP00000508336.1:n.*1416_*1424del
ENST00000683853.1:c.*226+281_*226+289del	ENSP00000506834.1:n.*226+281_*226+289del
ENST00000683860.1:c.*138_*146del	ENSP00000507179.1:n.*138_*146del
ENST00000683884.1:c.*345_*353del	ENSP00000507004.1:n.*345_*353del
ENST00000684041.1:c.*277_*285del	ENSP00000508382.1:n.*277_*285del
ENST00000684125.1:c.*81+281_*81+289del	ENSP00000507320.1:n.*81+281_*81+289del
ENST00000684203.1:n.3467_3475del
ENST00000684231.1:c.*831+281_*831+289del	ENSP00000507748.1:n.*831+281_*831+289del
ENST00000684263.1:c.*642_*650del	ENSP00000508369.1:n.*642_*650del
ENST00000684305.1:c.1869+281_1869+289del	ENSP00000506819.1:n.1869+281_1869+289del
ENST00000684415.1:c.*569_*577del	ENSP00000507227.1:n.*569_*577del
ENST00000684520.1:c.*277_*285del	ENSP00000506826.1:n.*277_*285del
ENST00000684602.1:c.*1087+281_*1087+289del	ENSP00000507996.1:n.*1087+281_*1087+289del
ENST00000684667.1:c.1752+281_1752+289del	ENSP00000507003.1:n.1752+281_1752+289del
ENST00000268097.10:c.1421+281_1421+289del MANE Select	ENSP00000268097.6:n.1421+281_1421+289del
ENST00000268097.9:c.1421+281_1421+289del	ENSP00000268097.5:n.1421+281_1421+289del
ENST00000379915.4:c.503+281_503+289del	ENSP00000478716.1:n.503+281_503+289del
ENST00000566304.5:c.1454+281_1454+289del	ENSP00000455114.1:n.1454+281_1454+289del
ENST00000567027.5:c.1036+281_1036+289del
ENST00000567159.5:c.1421+281_1421+289del	ENSP00000456489.1:n.1421+281_1421+289del
ENST00000567411.5:c.*942+281_*942+289del	ENSP00000455545.1:n.*942+281_*942+289del
ENST00000568777.5:n.6641+281_6641+289del
NM_000520.4:c.1421+281_1421+289del	NP_000511.2:n.1421+281_1421+289del
NM_000520.5:c.1421+281_1421+289del	NP_000511.2:n.1421+281_1421+289del
NM_001318825.1:c.1454+281_1454+289del	NP_001305754.1:n.1454+281_1454+289del
NR_134869.1:n.1665+281_1665+289del
NM_000520.6:c.1421+281_1421+289del MANE Select	NP_000511.2:n.1421+281_1421+289del
NM_001318825.2:c.1454+281_1454+289del	NP_001305754.1:n.1454+281_1454+289del
NR_134869.2:n.1206+281_1206+289del
NR_134869.3:n.1206+281_1206+289del