Canonical Allele Identifier: CA645584020
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346658_72346659del , CM000677.2:g.72346658_72346659del GRCh38
NC_000015.9:g.72638999_72639000del , CM000677.1:g.72638999_72639000del GRCh37
NC_000015.8:g.70426053_70426054del NCBI36
NG_009017.1:g.34524_34525del
NG_009017.2:g.34524_34525del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-331_1074-330del ENSP00000457521.2:n.1074-331_1074-330del
ENST00000682061.1:c.*863_*864del ENSP00000508316.1:n.*863_*864del
ENST00000682064.1:n.543_544del
ENST00000682177.1:c.1244_1245del ENSP00000507409.1:n.1244_1245del
ENST00000682235.1:n.540_541del
ENST00000682461.1:c.1307_1308del ENSP00000507308.1:n.1307_1308del
ENST00000682653.1:n.1521_1522del
ENST00000682657.1:c.*484-331_*484-330del ENSP00000507753.1:n.*484-331_*484-330del
ENST00000682721.1:c.*1004_*1005del ENSP00000507535.1:n.*1004_*1005del
ENST00000682843.1:c.*972-331_*972-330del ENSP00000508173.1:n.*972-331_*972-330del
ENST00000683003.1:c.*484-331_*484-330del ENSP00000507576.1:n.*484-331_*484-330del
ENST00000683133.1:c.1385_1386del ENSP00000508108.1:n.1385_1386del
ENST00000683243.1:c.*484-331_*484-330del ENSP00000507042.1:n.*484-331_*484-330del
ENST00000683463.1:c.*6_*7del ENSP00000507986.1:n.*6_*7del
ENST00000683548.1:n.1105-331_1105-330del
ENST00000683579.1:c.*1099_*1100del ENSP00000506867.1:n.*1099_*1100del
ENST00000683587.1:n.1178-331_1178-330del
ENST00000683681.1:c.1201_1202del ENSP00000508110.1:p.Met401GlufsTer29
ENST00000683735.1:c.*1045-331_*1045-330del ENSP00000508336.1:n.*1045-331_*1045-330del
ENST00000683853.1:c.*6_*7del ENSP00000506834.1:n.*6_*7del
ENST00000683860.1:c.1201_1202del ENSP00000507179.1:p.Met401GlufsTer29
ENST00000683884.1:c.1147-331_1147-330del ENSP00000507004.1:n.1147-331_1147-330del
ENST00000684041.1:c.1201_1202del ENSP00000508382.1:p.Met401GlufsTer29
ENST00000684125.1:c.1074-331_1074-330del ENSP00000507320.1:n.1074-331_1074-330del
ENST00000684203.1:n.2966_2967del
ENST00000684231.1:c.*611_*612del ENSP00000507748.1:n.*611_*612del
ENST00000684263.1:c.*141_*142del ENSP00000508369.1:n.*141_*142del
ENST00000684305.1:c.1649_1650del ENSP00000506819.1:n.1649_1650del
ENST00000684415.1:c.*68_*69del ENSP00000507227.1:n.*68_*69del
ENST00000684520.1:c.1201_1202del ENSP00000506826.1:p.Met401GlufsTer29
ENST00000684602.1:c.*867_*868del ENSP00000507996.1:n.*867_*868del
ENST00000684667.1:c.1532_1533del ENSP00000507003.1:n.1532_1533del
ENST00000268097.10:c.1201_1202del MANE Select ENSP00000268097.6:p.Met401GlufsTer29
ENST00000268097.9:c.1201_1202del ENSP00000268097.5:p.Met401GlufsTer29
ENST00000379915.4:c.413-331_413-330del ENSP00000478716.1:n.413-331_413-330del
ENST00000563762.5:c.826-331_826-330del ENSP00000456346.1:n.826-331_826-330del
ENST00000566304.5:c.1234_1235del ENSP00000455114.1:p.Met412GlufsTer29
ENST00000566672.5:c.*611_*612del ENSP00000457037.1:n.*611_*612del
ENST00000567027.5:c.946-331_946-330del
ENST00000567159.5:c.1201_1202del ENSP00000456489.1:p.Met401GlufsTer29
ENST00000567411.5:c.*722_*723del ENSP00000455545.1:n.*722_*723del
ENST00000568777.5:n.6551-331_6551-330del
ENST00000569410.5:c.*6_*7del ENSP00000457125.1:n.*6_*7del
NM_000520.4:c.1201_1202del NP_000511.2:p.Met401GlufsTer29
NM_000520.5:c.1201_1202del NP_000511.2:p.Met401GlufsTer29
NM_001318825.1:c.1234_1235del NP_001305754.1:p.Met412GlufsTer29
NR_134869.1:n.1575-331_1575-330del
NM_000520.6:c.1201_1202del MANE Select NP_000511.2:p.Met401GlufsTer29
NM_001318825.2:c.1234_1235del NP_001305754.1:p.Met412GlufsTer29
NR_134869.2:n.1116-331_1116-330del
NR_134869.3:n.1116-331_1116-330del