Canonical Allele Identifier: CA2186744335
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72347867_72347914delinsTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGA , CM000677.2:g.72347867_72347914delinsTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGA GRCh38
NC_000015.9:g.72640208_72640255delinsTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGA , CM000677.1:g.72640208_72640255delinsTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGA GRCh37
NC_000015.8:g.70427262_70427309delinsTAAGCAGTGTCTTTCCCCTGGGCTGAAAACCAACCACTCCAAATCTGA NCBI36
NG_009017.1:g.33266_33313delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
NG_009017.2:g.33266_33313delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1073+134_1073+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000457521.2:n.1073+134_1073+181delinsTCAGATTTGGAGTGGTTG...
ENST00000682061.1:c.*735+134_*736-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000508316.1:n.*735+134_*736-109delinsTCAGATTTGGAGTGGTTG...
ENST00000682177.1:c.1116+134_1117-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507409.1:n.1116+134_1117-109delinsTCAGATTTGGAGTGGTTG...
ENST00000682461.1:c.1179+134_1180-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507308.1:n.1179+134_1180-109delinsTCAGATTTGGAGTGGTTG...
ENST00000682653.1:n.1238_1285delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
ENST00000682657.1:c.*483+134_*483+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507753.1:n.*483+134_*483+181delinsTCAGATTTGGAGTGGTTG...
ENST00000682721.1:c.*876+134_*877-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507535.1:n.*876+134_*877-109delinsTCAGATTTGGAGTGGTTG...
ENST00000682843.1:c.*971+134_*971+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000508173.1:n.*971+134_*971+181delinsTCAGATTTGGAGTGGTTG...
ENST00000683003.1:c.*483+134_*483+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507576.1:n.*483+134_*483+181delinsTCAGATTTGGAGTGGTTG...
ENST00000683133.1:c.1257+134_1258-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000508108.1:n.1257+134_1258-109delinsTCAGATTTGGAGTGGTTG...
ENST00000683228.1:n.1104+134_1105-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
ENST00000683243.1:c.*483+134_*483+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507042.1:n.*483+134_*483+181delinsTCAGATTTGGAGTGGTTG...
ENST00000683463.1:c.1073+134_1073+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507986.1:n.1073+134_1073+181delinsTCAGATTTGGAGTGGTTG...
ENST00000683548.1:n.1104+134_1104+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
ENST00000683579.1:c.*971+134_*972-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000506867.1:n.*971+134_*972-109delinsTCAGATTTGGAGTGGTTG...
ENST00000683587.1:n.1104+134_1105-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
ENST00000683681.1:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000508110.1:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTG...
ENST00000683735.1:c.*971+134_*972-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000508336.1:n.*971+134_*972-109delinsTCAGATTTGGAGTGGTTG...
ENST00000683742.1:n.904+134_905-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
ENST00000683853.1:c.1073+134_1073+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000506834.1:n.1073+134_1073+181delinsTCAGATTTGGAGTGGTTG...
ENST00000683860.1:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507179.1:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTG...
ENST00000683884.1:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507004.1:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTG...
ENST00000684041.1:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000508382.1:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTG...
ENST00000684125.1:c.1073+134_1073+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507320.1:n.1073+134_1073+181delinsTCAGATTTGGAGTGGTTG...
ENST00000684203.1:n.2911+134_2911+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
ENST00000684231.1:c.*483+134_*484-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507748.1:n.*483+134_*484-109delinsTCAGATTTGGAGTGGTTG...
ENST00000684263.1:c.*13+117_*14-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000508369.1:n.*13+117_*14-109delinsTCAGATTTGGAGTGGTTGGT...
ENST00000684305.1:c.1521+134_1522-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000506819.1:n.1521+134_1522-109delinsTCAGATTTGGAGTGGTTG...
ENST00000684415.1:c.*13+117_*13+164delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507227.1:n.*13+117_*13+164delinsTCAGATTTGGAGTGGTTGGT...
ENST00000684520.1:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000506826.1:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTG...
ENST00000684602.1:c.*739+134_*740-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507996.1:n.*739+134_*740-109delinsTCAGATTTGGAGTGGTTG...
ENST00000684667.1:c.1404+134_1405-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000507003.1:n.1404+134_1405-109delinsTCAGATTTGGAGTGGTTG...
ENST00000268097.10:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA MANE Select ENSP00000268097.6:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTG...
ENST00000268097.9:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000268097.5:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTG...
ENST00000379915.4:c.413-1589_413-1542delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000478716.1:n.413-1589_413-1542delinsTCAGATTTGGAGTGGTTG...
ENST00000563762.5:c.825+134_825+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000456346.1:n.825+134_825+181delinsTCAGATTTGGAGTGGTTGGT...
ENST00000566304.5:c.1106+134_1107-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000455114.1:n.1106+134_1107-109delinsTCAGATTTGGAGTGGTTG...
ENST00000566672.5:c.*483+134_*484-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000457037.1:n.*483+134_*484-109delinsTCAGATTTGGAGTGGTTG...
ENST00000567027.5:c.945+134_945+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
ENST00000567159.5:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000456489.1:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTG...
ENST00000567411.5:c.*594+134_*595-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000455545.1:n.*594+134_*595-109delinsTCAGATTTGGAGTGGTTG...
ENST00000568777.5:n.6477+134_6478-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
ENST00000569410.5:c.1073+134_1073+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA ENSP00000457125.1:n.1073+134_1073+181delinsTCAGATTTGGAGTGGTTG...
NM_000520.4:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA NP_000511.2:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTC...
NM_000520.5:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA NP_000511.2:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTC...
NM_001318825.1:c.1106+134_1107-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA NP_001305754.1:n.1106+134_1107-109delinsTCAGATTTGGAGTGGTTGGTT...
NR_134869.1:n.1574+134_1574+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
NM_000520.6:c.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA MANE Select NP_000511.2:n.1073+134_1074-109delinsTCAGATTTGGAGTGGTTGGTTTTC...
NM_001318825.2:c.1106+134_1107-109delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA NP_001305754.1:n.1106+134_1107-109delinsTCAGATTTGGAGTGGTTGGTT...
NR_134869.2:n.1115+134_1115+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA
NR_134869.3:n.1115+134_1115+181delinsTCAGATTTGGAGTGGTTGGTTTTCAGCCCAGGGGAAAGACACTGCTTA