Canonical Allele Identifier: CA272610530
Gene: HEXA HGNC NCBI

Linked Data

dbSNP Id: rs1009126805

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72347131_72347132del , CM000677.2:g.72347131_72347132del GRCh38
NC_000015.9:g.72639472_72639473del , CM000677.1:g.72639472_72639473del GRCh37
NC_000015.8:g.70426526_70426527del NCBI36
NG_009017.1:g.34050_34051del
NG_009017.2:g.34050_34051del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-805_1074-804del ENSP00000457521.2:n.1074-805_1074-804del
ENST00000682061.1:c.*809-420_*809-419del ENSP00000508316.1:n.*809-420_*809-419del
ENST00000682064.1:n.69_70del
ENST00000682177.1:c.1190-420_1190-419del ENSP00000507409.1:n.1190-420_1190-419del
ENST00000682235.1:n.66_67del
ENST00000682461.1:c.1253-420_1253-419del ENSP00000507308.1:n.1253-420_1253-419del
ENST00000682653.1:n.1467-420_1467-419del
ENST00000682657.1:c.*484-805_*484-804del ENSP00000507753.1:n.*484-805_*484-804del
ENST00000682721.1:c.*950-420_*950-419del ENSP00000507535.1:n.*950-420_*950-419del
ENST00000682843.1:c.*972-805_*972-804del ENSP00000508173.1:n.*972-805_*972-804del
ENST00000683003.1:c.*484-805_*484-804del ENSP00000507576.1:n.*484-805_*484-804del
ENST00000683133.1:c.1331-420_1331-419del ENSP00000508108.1:n.1331-420_1331-419del
ENST00000683243.1:c.*484-805_*484-804del ENSP00000507042.1:n.*484-805_*484-804del
ENST00000683463.1:c.1074-420_1074-419del ENSP00000507986.1:n.1074-420_1074-419del
ENST00000683548.1:n.1105-805_1105-804del
ENST00000683579.1:c.*1045-420_*1045-419del ENSP00000506867.1:n.*1045-420_*1045-419del
ENST00000683587.1:n.1177+556_1177+557del
ENST00000683681.1:c.1147-420_1147-419del ENSP00000508110.1:n.1147-420_1147-419del
ENST00000683735.1:c.*1044+556_*1044+557del ENSP00000508336.1:n.*1044+556_*1044+557del
ENST00000683853.1:c.1074-420_1074-419del ENSP00000506834.1:n.1074-420_1074-419del
ENST00000683860.1:c.1147-420_1147-419del ENSP00000507179.1:n.1147-420_1147-419del
ENST00000683884.1:c.1146+556_1146+557del ENSP00000507004.1:n.1146+556_1146+557del
ENST00000684041.1:c.1147-420_1147-419del ENSP00000508382.1:n.1147-420_1147-419del
ENST00000684125.1:c.1074-805_1074-804del ENSP00000507320.1:n.1074-805_1074-804del
ENST00000684203.1:n.2912-420_2912-419del
ENST00000684231.1:c.*557-420_*557-419del ENSP00000507748.1:n.*557-420_*557-419del
ENST00000684263.1:c.*87-420_*87-419del ENSP00000508369.1:n.*87-420_*87-419del
ENST00000684305.1:c.1595-420_1595-419del ENSP00000506819.1:n.1595-420_1595-419del
ENST00000684415.1:c.*14-420_*14-419del ENSP00000507227.1:n.*14-420_*14-419del
ENST00000684520.1:c.1147-420_1147-419del ENSP00000506826.1:n.1147-420_1147-419del
ENST00000684602.1:c.*813-420_*813-419del ENSP00000507996.1:n.*813-420_*813-419del
ENST00000684667.1:c.1478-420_1478-419del ENSP00000507003.1:n.1478-420_1478-419del
ENST00000268097.10:c.1147-420_1147-419del MANE Select ENSP00000268097.6:n.1147-420_1147-419del
ENST00000268097.9:c.1147-420_1147-419del ENSP00000268097.5:n.1147-420_1147-419del
ENST00000379915.4:c.413-805_413-804del ENSP00000478716.1:n.413-805_413-804del
ENST00000563762.5:c.826-805_826-804del ENSP00000456346.1:n.826-805_826-804del
ENST00000566304.5:c.1180-420_1180-419del ENSP00000455114.1:n.1180-420_1180-419del
ENST00000566672.5:c.*557-420_*557-419del ENSP00000457037.1:n.*557-420_*557-419del
ENST00000567027.5:c.946-805_946-804del
ENST00000567159.5:c.1147-420_1147-419del ENSP00000456489.1:n.1147-420_1147-419del
ENST00000567411.5:c.*668-420_*668-419del ENSP00000455545.1:n.*668-420_*668-419del
ENST00000568777.5:n.6550+556_6550+557del
ENST00000569410.5:c.1074-420_1074-419del ENSP00000457125.1:n.1074-420_1074-419del
NM_000520.4:c.1147-420_1147-419del NP_000511.2:n.1147-420_1147-419del
NM_000520.5:c.1147-420_1147-419del NP_000511.2:n.1147-420_1147-419del
NM_001318825.1:c.1180-420_1180-419del NP_001305754.1:n.1180-420_1180-419del
NR_134869.1:n.1575-805_1575-804del
NM_000520.6:c.1147-420_1147-419del MANE Select NP_000511.2:n.1147-420_1147-419del
NM_001318825.2:c.1180-420_1180-419del NP_001305754.1:n.1180-420_1180-419del
NR_134869.2:n.1116-805_1116-804del
NR_134869.3:n.1116-805_1116-804del