Canonical Allele Identifier: CA2629340419

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345772-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345778_72345779del , CM000677.2:g.72345778_72345779del	GRCh38
NC_000015.9:g.72638119_72638120del , CM000677.1:g.72638119_72638120del	GRCh37
NC_000015.8:g.70425173_70425174del	NCBI36
NG_009017.1:g.35406_35407del
NG_009017.2:g.35406_35407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-224_*82-223del	ENSP00000457521.2:n.*82-224_*82-223del
ENST00000682061.1:c.*1544_*1545del	ENSP00000508316.1:n.*1544_*1545del
ENST00000682064.1:n.1425_1426del
ENST00000682177.1:c.1465-224_1465-223del	ENSP00000507409.1:n.1465-224_1465-223del
ENST00000682235.1:n.1221_1222del
ENST00000682461.1:c.1528-224_1528-223del	ENSP00000507308.1:n.1528-224_1528-223del
ENST00000682653.1:n.2202_2203del
ENST00000682657.1:c.*1035_*1036del	ENSP00000507753.1:n.*1035_*1036del
ENST00000682721.1:c.*1225-224_*1225-223del	ENSP00000507535.1:n.*1225-224_*1225-223del
ENST00000682843.1:c.*1063-224_*1063-223del	ENSP00000508173.1:n.*1063-224_*1063-223del
ENST00000683003.1:c.*1035_*1036del	ENSP00000507576.1:n.*1035_*1036del
ENST00000683133.1:c.1606-224_1606-223del	ENSP00000508108.1:n.1606-224_1606-223del
ENST00000683243.1:c.*575-224_*575-223del	ENSP00000507042.1:n.*575-224_*575-223del
ENST00000683463.1:c.*687_*688del	ENSP00000507986.1:n.*687_*688del
ENST00000683548.1:n.1656_1657del
ENST00000683579.1:c.*1320-224_*1320-223del	ENSP00000506867.1:n.*1320-224_*1320-223del
ENST00000683587.1:n.1729_1730del
ENST00000683681.1:c.*2_*3del
ENST00000683735.1:c.*1596_*1597del	ENSP00000508336.1:n.*1596_*1597del
ENST00000683853.1:c.*227-224_*227-223del	ENSP00000506834.1:n.*227-224_*227-223del
ENST00000683860.1:c.*318_*319del	ENSP00000507179.1:n.*318_*319del
ENST00000683884.1:c.*525_*526del	ENSP00000507004.1:n.*525_*526del
ENST00000684041.1:c.*457_*458del	ENSP00000508382.1:n.*457_*458del
ENST00000684125.1:c.*82-224_*82-223del	ENSP00000507320.1:n.*82-224_*82-223del
ENST00000684203.1:n.3647_3648del
ENST00000684231.1:c.*832-224_*832-223del	ENSP00000507748.1:n.*832-224_*832-223del
ENST00000684263.1:c.*822_*823del	ENSP00000508369.1:n.*822_*823del
ENST00000684305.1:c.1870-224_1870-223del	ENSP00000506819.1:n.1870-224_1870-223del
ENST00000684415.1:c.*749_*750del	ENSP00000507227.1:n.*749_*750del
ENST00000684520.1:c.*457_*458del	ENSP00000506826.1:n.*457_*458del
ENST00000684602.1:c.*1088-224_*1088-223del	ENSP00000507996.1:n.*1088-224_*1088-223del
ENST00000684667.1:c.1753-224_1753-223del	ENSP00000507003.1:n.1753-224_1753-223del
ENST00000268097.10:c.1422-224_1422-223del MANE Select	ENSP00000268097.6:n.1422-224_1422-223del
ENST00000268097.9:c.1422-224_1422-223del	ENSP00000268097.5:n.1422-224_1422-223del
ENST00000379915.4:c.504-224_504-223del	ENSP00000478716.1:n.504-224_504-223del
ENST00000564677.5:n.116_117del
ENST00000565873.1:n.109_110del
ENST00000566304.5:c.1455-224_1455-223del	ENSP00000455114.1:n.1455-224_1455-223del
ENST00000567027.5:c.1037-224_1037-223del
ENST00000567159.5:c.1422-224_1422-223del	ENSP00000456489.1:n.1422-224_1422-223del
ENST00000567411.5:c.*943-224_*943-223del	ENSP00000455545.1:n.*943-224_*943-223del
ENST00000568777.5:n.6642-224_6642-223del
ENST00000569116.1:n.31_32del
NM_000520.4:c.1422-224_1422-223del	NP_000511.2:n.1422-224_1422-223del
NM_000520.5:c.1422-224_1422-223del	NP_000511.2:n.1422-224_1422-223del
NM_001318825.1:c.1455-224_1455-223del	NP_001305754.1:n.1455-224_1455-223del
NR_134869.1:n.1666-224_1666-223del
NM_000520.6:c.1422-224_1422-223del MANE Select	NP_000511.2:n.1422-224_1422-223del
NM_001318825.2:c.1455-224_1455-223del	NP_001305754.1:n.1455-224_1455-223del
NR_134869.2:n.1207-224_1207-223del
NR_134869.3:n.1207-224_1207-223del