Canonical Allele Identifier: CA2186743735

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346685_72346688delinsACCT , CM000677.2:g.72346685_72346688delinsACCT	GRCh38
NC_000015.9:g.72639026_72639029delinsACCT , CM000677.1:g.72639026_72639029delinsACCT	GRCh37
NC_000015.8:g.70426080_70426083delinsACCT	NCBI36
NG_009017.1:g.34492_34495delinsAGGT
NG_009017.2:g.34492_34495delinsAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-363_1074-360delinsAGGT	ENSP00000457521.2:n.1074-363_1074-360delinsAGGT
ENST00000682061.1:c.*831_*834delinsAGGT	ENSP00000508316.1:n.*831_*834delinsAGGT
ENST00000682064.1:n.511_514delinsAGGT
ENST00000682177.1:c.1212_1215delinsAGGT	ENSP00000507409.1:n.1212_1215delinsAGGT
ENST00000682235.1:n.508_511delinsAGGT
ENST00000682461.1:c.1275_1278delinsAGGT	ENSP00000507308.1:n.1275_1278delinsAGGT
ENST00000682653.1:n.1489_1492delinsAGGT
ENST00000682657.1:c.*484-363_*484-360delinsAGGT	ENSP00000507753.1:n.*484-363_*484-360delinsAGGT
ENST00000682721.1:c.*972_*975delinsAGGT	ENSP00000507535.1:n.*972_*975delinsAGGT
ENST00000682843.1:c.*972-363_*972-360delinsAGGT	ENSP00000508173.1:n.*972-363_*972-360delinsAGGT
ENST00000683003.1:c.*484-363_*484-360delinsAGGT	ENSP00000507576.1:n.*484-363_*484-360delinsAGGT
ENST00000683133.1:c.1353_1356delinsAGGT	ENSP00000508108.1:n.1353_1356delinsAGGT
ENST00000683243.1:c.*484-363_*484-360delinsAGGT	ENSP00000507042.1:n.*484-363_*484-360delinsAGGT
ENST00000683463.1:c.1096_1099delinsAGGT	ENSP00000507986.1:p.Arg366=
ENST00000683548.1:n.1105-363_1105-360delinsAGGT
ENST00000683579.1:c.*1067_*1070delinsAGGT	ENSP00000506867.1:n.*1067_*1070delinsAGGT
ENST00000683587.1:n.1178-363_1178-360delinsAGGT
ENST00000683681.1:c.1169_1172delinsAGGT	ENSP00000508110.1:p.Gln390=
ENST00000683735.1:c.*1045-363_*1045-360delinsAGGT	ENSP00000508336.1:n.*1045-363_*1045-360delinsAGGT
ENST00000683853.1:c.1096_1099delinsAGGT	ENSP00000506834.1:p.Arg366=
ENST00000683860.1:c.1169_1172delinsAGGT	ENSP00000507179.1:p.Gln390=
ENST00000683884.1:c.1147-363_1147-360delinsAGGT	ENSP00000507004.1:n.1147-363_1147-360delinsAGGT
ENST00000684041.1:c.1169_1172delinsAGGT	ENSP00000508382.1:p.Gln390=
ENST00000684125.1:c.1074-363_1074-360delinsAGGT	ENSP00000507320.1:n.1074-363_1074-360delinsAGGT
ENST00000684203.1:n.2934_2937delinsAGGT
ENST00000684231.1:c.*579_*582delinsAGGT	ENSP00000507748.1:n.*579_*582delinsAGGT
ENST00000684263.1:c.*109_*112delinsAGGT	ENSP00000508369.1:n.*109_*112delinsAGGT
ENST00000684305.1:c.1617_1620delinsAGGT	ENSP00000506819.1:n.1617_1620delinsAGGT
ENST00000684415.1:c.*36_*39delinsAGGT	ENSP00000507227.1:n.*36_*39delinsAGGT
ENST00000684520.1:c.1169_1172delinsAGGT	ENSP00000506826.1:p.Gln390=
ENST00000684602.1:c.*835_*838delinsAGGT	ENSP00000507996.1:n.*835_*838delinsAGGT
ENST00000684667.1:c.1500_1503delinsAGGT	ENSP00000507003.1:n.1500_1503delinsAGGT
ENST00000268097.10:c.1169_1172delinsAGGT MANE Select	ENSP00000268097.6:p.Gln390=
ENST00000268097.9:c.1169_1172delinsAGGT	ENSP00000268097.5:p.Gln390=
ENST00000379915.4:c.413-363_413-360delinsAGGT	ENSP00000478716.1:n.413-363_413-360delinsAGGT
ENST00000563762.5:c.826-363_826-360delinsAGGT	ENSP00000456346.1:n.826-363_826-360delinsAGGT
ENST00000566304.5:c.1202_1205delinsAGGT	ENSP00000455114.1:p.Gln401=
ENST00000566672.5:c.*579_*582delinsAGGT	ENSP00000457037.1:n.*579_*582delinsAGGT
ENST00000567027.5:c.946-363_946-360delinsAGGT
ENST00000567159.5:c.1169_1172delinsAGGT	ENSP00000456489.1:p.Gln390=
ENST00000567411.5:c.*690_*693delinsAGGT	ENSP00000455545.1:n.*690_*693delinsAGGT
ENST00000568777.5:n.6551-363_6551-360delinsAGGT
ENST00000569410.5:c.1096_1099delinsAGGT	ENSP00000457125.1:p.Arg366=
NM_000520.4:c.1169_1172delinsAGGT	NP_000511.2:p.Gln390=
NM_000520.5:c.1169_1172delinsAGGT	NP_000511.2:p.Gln390=
NM_001318825.1:c.1202_1205delinsAGGT	NP_001305754.1:p.Gln401=
NR_134869.1:n.1575-363_1575-360delinsAGGT
NM_000520.6:c.1169_1172delinsAGGT MANE Select	NP_000511.2:p.Gln390=
NM_001318825.2:c.1202_1205delinsAGGT	NP_001305754.1:p.Gln401=
NR_134869.2:n.1116-363_1116-360delinsAGGT
NR_134869.3:n.1116-363_1116-360delinsAGGT