Canonical Allele Identifier: CA2629341173

Gene: HEXA

Linked Data

• gnomAD v4: 15-72346417-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346418_72346419del , CM000677.2:g.72346418_72346419del	GRCh38
NC_000015.9:g.72638759_72638760del , CM000677.1:g.72638759_72638760del	GRCh37
NC_000015.8:g.70425813_70425814del	NCBI36
NG_009017.1:g.34761_34762del
NG_009017.2:g.34761_34762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-94_1074-93del	ENSP00000457521.2:n.1074-94_1074-93del
ENST00000682061.1:c.*993-94_*993-93del	ENSP00000508316.1:n.*993-94_*993-93del
ENST00000682064.1:n.780_781del
ENST00000682177.1:c.1374-94_1374-93del	ENSP00000507409.1:n.1374-94_1374-93del
ENST00000682235.1:n.670-94_670-93del
ENST00000682461.1:c.1437-94_1437-93del	ENSP00000507308.1:n.1437-94_1437-93del
ENST00000682653.1:n.1651-94_1651-93del
ENST00000682657.1:c.*484-94_*484-93del	ENSP00000507753.1:n.*484-94_*484-93del
ENST00000682721.1:c.*1134-94_*1134-93del	ENSP00000507535.1:n.*1134-94_*1134-93del
ENST00000682843.1:c.*972-94_*972-93del	ENSP00000508173.1:n.*972-94_*972-93del
ENST00000683003.1:c.*484-94_*484-93del	ENSP00000507576.1:n.*484-94_*484-93del
ENST00000683133.1:c.1515-94_1515-93del	ENSP00000508108.1:n.1515-94_1515-93del
ENST00000683243.1:c.*484-94_*484-93del	ENSP00000507042.1:n.*484-94_*484-93del
ENST00000683463.1:c.*136-94_*136-93del	ENSP00000507986.1:n.*136-94_*136-93del
ENST00000683548.1:n.1105-94_1105-93del
ENST00000683579.1:c.*1229-94_*1229-93del	ENSP00000506867.1:n.*1229-94_*1229-93del
ENST00000683587.1:n.1178-94_1178-93del
ENST00000683681.1:c.1331-94_1331-93del	ENSP00000508110.1:n.1331-94_1331-93del
ENST00000683735.1:c.*1045-94_*1045-93del	ENSP00000508336.1:n.*1045-94_*1045-93del
ENST00000683853.1:c.*136-94_*136-93del	ENSP00000506834.1:n.*136-94_*136-93del
ENST00000683860.1:c.1331-94_1331-93del	ENSP00000507179.1:n.1331-94_1331-93del
ENST00000683884.1:c.1147-94_1147-93del	ENSP00000507004.1:n.1147-94_1147-93del
ENST00000684041.1:c.1331-94_1331-93del	ENSP00000508382.1:n.1331-94_1331-93del
ENST00000684125.1:c.1074-94_1074-93del	ENSP00000507320.1:n.1074-94_1074-93del
ENST00000684203.1:n.3096-94_3096-93del
ENST00000684231.1:c.*741-94_*741-93del	ENSP00000507748.1:n.*741-94_*741-93del
ENST00000684263.1:c.*271-94_*271-93del	ENSP00000508369.1:n.*271-94_*271-93del
ENST00000684305.1:c.1779-94_1779-93del	ENSP00000506819.1:n.1779-94_1779-93del
ENST00000684415.1:c.*198-94_*198-93del	ENSP00000507227.1:n.*198-94_*198-93del
ENST00000684520.1:c.1331-94_1331-93del	ENSP00000506826.1:n.1331-94_1331-93del
ENST00000684602.1:c.*997-94_*997-93del	ENSP00000507996.1:n.*997-94_*997-93del
ENST00000684667.1:c.1662-94_1662-93del	ENSP00000507003.1:n.1662-94_1662-93del
ENST00000268097.10:c.1331-94_1331-93del MANE Select	ENSP00000268097.6:n.1331-94_1331-93del
ENST00000268097.9:c.1331-94_1331-93del	ENSP00000268097.5:n.1331-94_1331-93del
ENST00000379915.4:c.413-94_413-93del	ENSP00000478716.1:n.413-94_413-93del
ENST00000563762.5:c.826-94_826-93del	ENSP00000456346.1:n.826-94_826-93del
ENST00000566304.5:c.1364-94_1364-93del	ENSP00000455114.1:n.1364-94_1364-93del
ENST00000566672.5:c.*741-94_*741-93del	ENSP00000457037.1:n.*741-94_*741-93del
ENST00000567027.5:c.946-94_946-93del
ENST00000567159.5:c.1331-94_1331-93del	ENSP00000456489.1:n.1331-94_1331-93del
ENST00000567411.5:c.*852-94_*852-93del	ENSP00000455545.1:n.*852-94_*852-93del
ENST00000568777.5:n.6551-94_6551-93del
ENST00000569410.5:c.*136-94_*136-93del	ENSP00000457125.1:n.*136-94_*136-93del
NM_000520.4:c.1331-94_1331-93del	NP_000511.2:n.1331-94_1331-93del
NM_000520.5:c.1331-94_1331-93del	NP_000511.2:n.1331-94_1331-93del
NM_001318825.1:c.1364-94_1364-93del	NP_001305754.1:n.1364-94_1364-93del
NR_134869.1:n.1575-94_1575-93del
NM_000520.6:c.1331-94_1331-93del MANE Select	NP_000511.2:n.1331-94_1331-93del
NM_001318825.2:c.1364-94_1364-93del	NP_001305754.1:n.1364-94_1364-93del
NR_134869.2:n.1116-94_1116-93del
NR_134869.3:n.1116-94_1116-93del