Canonical Allele Identifier: CA7644772
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346731_72346732insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG , CM000677.2:g.72346731_72346732insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG GRCh38
NC_000015.9:g.72639072_72639073insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG , CM000677.1:g.72639072_72639073insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG GRCh37
NC_000015.8:g.70426126_70426127insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG NCBI36
NG_009017.1:g.34450_34451insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
NG_009017.2:g.34450_34451insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-405_1074-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000457521.2:n.1074-405_1074-404insTCGGCCTCCCAAAGTGCTGGG...
ENST00000682061.1:c.*809-20_*809-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000508316.1:n.*809-20_*809-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000682064.1:n.469_470insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
ENST00000682177.1:c.1190-20_1190-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507409.1:n.1190-20_1190-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000682235.1:n.466_467insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
ENST00000682461.1:c.1253-20_1253-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507308.1:n.1253-20_1253-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000682653.1:n.1467-20_1467-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
ENST00000682657.1:c.*484-405_*484-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507753.1:n.*484-405_*484-404insTCGGCCTCCCAAAGTGCTGGG...
ENST00000682721.1:c.*950-20_*950-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507535.1:n.*950-20_*950-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000682843.1:c.*972-405_*972-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000508173.1:n.*972-405_*972-404insTCGGCCTCCCAAAGTGCTGGG...
ENST00000683003.1:c.*484-405_*484-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507576.1:n.*484-405_*484-404insTCGGCCTCCCAAAGTGCTGGG...
ENST00000683133.1:c.1331-20_1331-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000508108.1:n.1331-20_1331-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000683243.1:c.*484-405_*484-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507042.1:n.*484-405_*484-404insTCGGCCTCCCAAAGTGCTGGG...
ENST00000683463.1:c.1074-20_1074-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507986.1:n.1074-20_1074-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000683548.1:n.1105-405_1105-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
ENST00000683579.1:c.*1045-20_*1045-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000506867.1:n.*1045-20_*1045-19insTCGGCCTCCCAAAGTGCTGGG...
ENST00000683587.1:n.1178-405_1178-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
ENST00000683681.1:c.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000508110.1:n.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000683735.1:c.*1045-405_*1045-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000508336.1:n.*1045-405_*1045-404insTCGGCCTCCCAAAGTGCTG...
ENST00000683853.1:c.1074-20_1074-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000506834.1:n.1074-20_1074-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000683860.1:c.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507179.1:n.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000683884.1:c.1147-405_1147-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507004.1:n.1147-405_1147-404insTCGGCCTCCCAAAGTGCTGGG...
ENST00000684041.1:c.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000508382.1:n.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000684125.1:c.1074-405_1074-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507320.1:n.1074-405_1074-404insTCGGCCTCCCAAAGTGCTGGG...
ENST00000684203.1:n.2912-20_2912-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
ENST00000684231.1:c.*557-20_*557-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507748.1:n.*557-20_*557-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000684263.1:c.*87-20_*87-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000508369.1:n.*87-20_*87-19insTCGGCCTCCCAAAGTGCTGGGATTA...
ENST00000684305.1:c.1595-20_1595-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000506819.1:n.1595-20_1595-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000684415.1:c.*14-20_*14-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507227.1:n.*14-20_*14-19insTCGGCCTCCCAAAGTGCTGGGATTA...
ENST00000684520.1:c.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000506826.1:n.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000684602.1:c.*813-20_*813-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507996.1:n.*813-20_*813-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000684667.1:c.1478-20_1478-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000507003.1:n.1478-20_1478-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000268097.10:c.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC MANE Select ENSP00000268097.6:n.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000268097.9:c.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000268097.5:n.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000379915.4:c.413-405_413-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000478716.1:n.413-405_413-404insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000563762.5:c.826-405_826-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000456346.1:n.826-405_826-404insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000566304.5:c.1180-20_1180-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000455114.1:n.1180-20_1180-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000566672.5:c.*557-20_*557-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000457037.1:n.*557-20_*557-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000567027.5:c.946-405_946-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
ENST00000567159.5:c.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000456489.1:n.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000567411.5:c.*668-20_*668-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000455545.1:n.*668-20_*668-19insTCGGCCTCCCAAAGTGCTGGGAT...
ENST00000568777.5:n.6551-405_6551-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
ENST00000569410.5:c.1074-20_1074-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC ENSP00000457125.1:n.1074-20_1074-19insTCGGCCTCCCAAAGTGCTGGGAT...
NM_000520.4:c.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC NP_000511.2:n.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGG...
NM_000520.5:c.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC NP_000511.2:n.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGG...
NM_001318825.1:c.1180-20_1180-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC NP_001305754.1:n.1180-20_1180-19insTCGGCCTCCCAAAGTGCTGGGATTAC...
NR_134869.1:n.1575-405_1575-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
NM_000520.6:c.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC MANE Select NP_000511.2:n.1147-20_1147-19insTCGGCCTCCCAAAGTGCTGGGATTACAGG...
NM_001318825.2:c.1180-20_1180-19insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC NP_001305754.1:n.1180-20_1180-19insTCGGCCTCCCAAAGTGCTGGGATTAC...
NR_134869.2:n.1116-405_1116-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC
NR_134869.3:n.1116-405_1116-404insTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC