Canonical Allele Identifier: CA971330938

Gene: HEXA

Linked Data

• dbSNP Id: rs2088642027
• gnomAD v3: 15-72348057-TAGA-T
• gnomAD v4: 15-72348057-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348060_72348062del , CM000677.2:g.72348060_72348062del	GRCh38
NC_000015.9:g.72640401_72640403del , CM000677.1:g.72640401_72640403del	GRCh37
NC_000015.8:g.70427455_70427457del	NCBI36
NG_009017.1:g.33120_33122del
NG_009017.2:g.33120_33122del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3407_3409del
ENST00000567027.6:c.1061_1063del	ENSP00000457521.2:p.Phe354del
ENST00000682061.1:c.*723_*725del	ENSP00000508316.1:n.*723_*725del
ENST00000682177.1:c.1104_1106del	ENSP00000507409.1:n.1104_1106del
ENST00000682461.1:c.1167_1169del	ENSP00000507308.1:n.1167_1169del
ENST00000682653.1:n.1092_1094del
ENST00000682657.1:c.*471_*473del	ENSP00000507753.1:n.*471_*473del
ENST00000682721.1:c.*864_*866del	ENSP00000507535.1:n.*864_*866del
ENST00000682843.1:c.*959_*961del	ENSP00000508173.1:n.*959_*961del
ENST00000683003.1:c.*471_*473del	ENSP00000507576.1:n.*471_*473del
ENST00000683133.1:c.1245_1247del	ENSP00000508108.1:n.1245_1247del
ENST00000683228.1:n.1092_1094del
ENST00000683243.1:c.*471_*473del	ENSP00000507042.1:n.*471_*473del
ENST00000683463.1:c.1061_1063del	ENSP00000507986.1:p.Phe354del
ENST00000683548.1:n.1092_1094del
ENST00000683579.1:c.*959_*961del	ENSP00000506867.1:n.*959_*961del
ENST00000683587.1:n.1092_1094del
ENST00000683681.1:c.1061_1063del	ENSP00000508110.1:p.Phe354del
ENST00000683735.1:c.*959_*961del	ENSP00000508336.1:n.*959_*961del
ENST00000683742.1:n.892_894del
ENST00000683853.1:c.1061_1063del	ENSP00000506834.1:p.Phe354del
ENST00000683860.1:c.1061_1063del	ENSP00000507179.1:p.Phe354del
ENST00000683884.1:c.1061_1063del	ENSP00000507004.1:p.Phe354del
ENST00000684041.1:c.1061_1063del	ENSP00000508382.1:p.Phe354del
ENST00000684125.1:c.1061_1063del	ENSP00000507320.1:p.Phe354del
ENST00000684203.1:n.2899_2901del
ENST00000684231.1:c.*471_*473del	ENSP00000507748.1:n.*471_*473del
ENST00000684263.1:c.1061_1063del	ENSP00000508369.1:p.Phe354del
ENST00000684305.1:c.1509_1511del	ENSP00000506819.1:n.1509_1511del
ENST00000684415.1:c.1061_1063del	ENSP00000507227.1:p.Phe354del
ENST00000684520.1:c.1061_1063del	ENSP00000506826.1:p.Phe354del
ENST00000684602.1:c.*727_*729del	ENSP00000507996.1:n.*727_*729del
ENST00000684667.1:c.1392_1394del	ENSP00000507003.1:n.1392_1394del
ENST00000268097.10:c.1061_1063del MANE Select	ENSP00000268097.6:p.Phe354del
ENST00000268097.9:c.1061_1063del	ENSP00000268097.5:p.Phe354del
ENST00000379915.4:c.413-1735_413-1733del	ENSP00000478716.1:n.413-1735_413-1733del
ENST00000563762.5:c.813_815del	ENSP00000456346.1:n.813_815del
ENST00000566304.5:c.1094_1096del	ENSP00000455114.1:p.Phe365del
ENST00000566672.5:c.*471_*473del	ENSP00000457037.1:n.*471_*473del
ENST00000567027.5:c.933_935del
ENST00000567159.5:c.1061_1063del	ENSP00000456489.1:p.Phe354del
ENST00000567411.5:c.*582_*584del	ENSP00000455545.1:n.*582_*584del
ENST00000568777.5:n.6465_6467del
ENST00000569410.5:c.1061_1063del	ENSP00000457125.1:p.Phe354del
NM_000520.4:c.1061_1063del	NP_000511.2:p.Phe354del
NM_000520.5:c.1061_1063del	NP_000511.2:p.Phe354del
NM_001318825.1:c.1094_1096del	NP_001305754.1:p.Phe365del
NR_134869.1:n.1562_1564del
NM_000520.6:c.1061_1063del MANE Select	NP_000511.2:p.Phe354del
NM_001318825.2:c.1094_1096del	NP_001305754.1:p.Phe365del
NR_134869.2:n.1103_1105del
NR_134869.3:n.1103_1105del