Canonical Allele Identifier: CA2575781235
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72351217del , CM000677.2:g.72351217del GRCh38
NC_000015.9:g.72643558del , CM000677.1:g.72643558del GRCh37
NC_000015.8:g.70430612del NCBI36
NG_009017.1:g.29963del
NG_009017.2:g.29963del

Transcript Alleles

HGVS Amino-acid change
ENST00000563908.2:n.2934del
ENST00000567027.6:c.588del ENSP00000457521.2:p.Asn196LysfsTer3
ENST00000568260.2:c.608del ENSP00000458128.2:n.608del
ENST00000682061.1:c.*250del ENSP00000508316.1:n.*250del
ENST00000682177.1:c.588del ENSP00000507409.1:p.Asn196LysfsTer3
ENST00000682461.1:c.694del ENSP00000507308.1:n.694del
ENST00000682653.1:n.619del
ENST00000682657.1:c.271del ENSP00000507753.1:p.Ter91LysextTer?
ENST00000682721.1:c.*391del ENSP00000507535.1:n.*391del
ENST00000682843.1:c.*486del ENSP00000508173.1:n.*486del
ENST00000683003.1:c.430del ENSP00000507576.1:p.Ter144LysextTer?
ENST00000683133.1:c.772del ENSP00000508108.1:n.772del
ENST00000683228.1:n.619del
ENST00000683243.1:c.430del ENSP00000507042.1:p.Ter144LysextTer?
ENST00000683463.1:c.588del ENSP00000507986.1:p.Asn196LysfsTer3
ENST00000683548.1:n.619del
ENST00000683579.1:c.*486del ENSP00000506867.1:n.*486del
ENST00000683587.1:n.619del
ENST00000683681.1:c.588del ENSP00000508110.1:p.Asn196LysfsTer3
ENST00000683735.1:c.*486del ENSP00000508336.1:n.*486del
ENST00000683742.1:n.419del
ENST00000683853.1:c.588del ENSP00000506834.1:p.Asn196LysfsTer3
ENST00000683860.1:c.588del ENSP00000507179.1:p.Asn196LysfsTer3
ENST00000683884.1:c.588del ENSP00000507004.1:p.Asn196LysfsTer3
ENST00000684041.1:c.588del ENSP00000508382.1:p.Asn196LysfsTer3
ENST00000684125.1:c.588del ENSP00000507320.1:p.Asn196LysfsTer3
ENST00000684203.1:n.2426del
ENST00000684231.1:c.430del ENSP00000507748.1:p.Ter144LysextTer?
ENST00000684263.1:c.588del ENSP00000508369.1:p.Asn196LysfsTer3
ENST00000684305.1:c.1036del ENSP00000506819.1:n.1036del
ENST00000684415.1:c.588del ENSP00000507227.1:p.Asn196LysfsTer3
ENST00000684520.1:c.588del ENSP00000506826.1:p.Asn196LysfsTer3
ENST00000684602.1:c.*254del ENSP00000507996.1:n.*254del
ENST00000684667.1:c.919del ENSP00000507003.1:n.919del
ENST00000268097.10:c.588del MANE Select ENSP00000268097.6:p.Asn196LysfsTer3
ENST00000268097.9:c.588del ENSP00000268097.5:p.Asn196LysfsTer3
ENST00000379915.4:c.412+4342del ENSP00000478716.1:n.412+4342del
ENST00000563762.5:c.521del ENSP00000456346.1:n.521del
ENST00000566304.5:c.621del ENSP00000455114.1:p.Asn207LysfsTer3
ENST00000566672.5:c.430del ENSP00000457037.1:p.Ter144LysextTer?
ENST00000567027.5:c.460del
ENST00000567159.5:c.588del ENSP00000456489.1:p.Asn196LysfsTer3
ENST00000567411.5:c.*109del ENSP00000455545.1:n.*109del
ENST00000568260.1:c.589del
ENST00000568777.5:n.5992del
ENST00000569410.5:c.588del ENSP00000457125.1:p.Asn196LysfsTer3
ENST00000569509.5:n.435del
NM_000520.4:c.588del NP_000511.2:p.Asn196LysfsTer3
NM_000520.5:c.588del NP_000511.2:p.Asn196LysfsTer3
NM_001318825.1:c.621del NP_001305754.1:p.Asn207LysfsTer3
NR_134869.1:n.1089del
NM_000520.6:c.588del MANE Select NP_000511.2:p.Asn196LysfsTer3
NM_001318825.2:c.621del NP_001305754.1:p.Asn207LysfsTer3
NR_134869.2:n.630del
NR_134869.3:n.630del