Canonical Allele Identifier: CA2186744872
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72349159_72349167delinsGCTCATGAA , CM000677.2:g.72349159_72349167delinsGCTCATGAA GRCh38
NC_000015.9:g.72641500_72641508delinsGCTCATGAA , CM000677.1:g.72641500_72641508delinsGCTCATGAA GRCh37
NC_000015.8:g.70428554_70428562delinsGCTCATGAA NCBI36
NG_009017.1:g.32013_32021delinsTTCATGAGC
NG_009017.2:g.32013_32021delinsTTCATGAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.3244_3252delinsTTCATGAGC
ENST00000567027.6:c.898_906delinsTTCATGAGC ENSP00000457521.2:p.Phe300=
ENST00000682061.1:c.*560_*568delinsTTCATGAGC ENSP00000508316.1:n.*560_*568delinsTTCATGAGC
ENST00000682177.1:c.941_949delinsTTCATGAGC ENSP00000507409.1:n.941_949delinsTTCATGAGC
ENST00000682461.1:c.1004_1012delinsTTCATGAGC ENSP00000507308.1:n.1004_1012delinsTTCATGAGC
ENST00000682653.1:n.929_937delinsTTCATGAGC
ENST00000682657.1:c.*308_*316delinsTTCATGAGC ENSP00000507753.1:n.*308_*316delinsTTCATGAGC
ENST00000682721.1:c.*701_*709delinsTTCATGAGC ENSP00000507535.1:n.*701_*709delinsTTCATGAGC
ENST00000682843.1:c.*796_*804delinsTTCATGAGC ENSP00000508173.1:n.*796_*804delinsTTCATGAGC
ENST00000683003.1:c.*308_*316delinsTTCATGAGC ENSP00000507576.1:n.*308_*316delinsTTCATGAGC
ENST00000683133.1:c.1082_1090delinsTTCATGAGC ENSP00000508108.1:n.1082_1090delinsTTCATGAGC
ENST00000683228.1:n.929_937delinsTTCATGAGC
ENST00000683243.1:c.*308_*316delinsTTCATGAGC ENSP00000507042.1:n.*308_*316delinsTTCATGAGC
ENST00000683463.1:c.898_906delinsTTCATGAGC ENSP00000507986.1:p.Phe300=
ENST00000683548.1:n.929_937delinsTTCATGAGC
ENST00000683579.1:c.*796_*804delinsTTCATGAGC ENSP00000506867.1:n.*796_*804delinsTTCATGAGC
ENST00000683587.1:n.929_937delinsTTCATGAGC
ENST00000683681.1:c.898_906delinsTTCATGAGC ENSP00000508110.1:p.Phe300=
ENST00000683735.1:c.*796_*804delinsTTCATGAGC ENSP00000508336.1:n.*796_*804delinsTTCATGAGC
ENST00000683742.1:n.729_737delinsTTCATGAGC
ENST00000683853.1:c.898_906delinsTTCATGAGC ENSP00000506834.1:p.Phe300=
ENST00000683860.1:c.898_906delinsTTCATGAGC ENSP00000507179.1:p.Phe300=
ENST00000683884.1:c.898_906delinsTTCATGAGC ENSP00000507004.1:p.Phe300=
ENST00000684041.1:c.898_906delinsTTCATGAGC ENSP00000508382.1:p.Phe300=
ENST00000684125.1:c.898_906delinsTTCATGAGC ENSP00000507320.1:p.Phe300=
ENST00000684203.1:n.2736_2744delinsTTCATGAGC
ENST00000684231.1:c.*308_*316delinsTTCATGAGC ENSP00000507748.1:n.*308_*316delinsTTCATGAGC
ENST00000684263.1:c.898_906delinsTTCATGAGC ENSP00000508369.1:p.Phe300=
ENST00000684305.1:c.1346_1354delinsTTCATGAGC ENSP00000506819.1:n.1346_1354delinsTTCATGAGC
ENST00000684415.1:c.898_906delinsTTCATGAGC ENSP00000507227.1:p.Phe300=
ENST00000684520.1:c.898_906delinsTTCATGAGC ENSP00000506826.1:p.Phe300=
ENST00000684602.1:c.*564_*572delinsTTCATGAGC ENSP00000507996.1:n.*564_*572delinsTTCATGAGC
ENST00000684667.1:c.1229_1237delinsTTCATGAGC ENSP00000507003.1:n.1229_1237delinsTTCATGAGC
ENST00000268097.10:c.898_906delinsTTCATGAGC MANE Select ENSP00000268097.6:p.Phe300=
ENST00000268097.9:c.898_906delinsTTCATGAGC ENSP00000268097.5:p.Phe300=
ENST00000379915.4:c.413-2842_413-2834delinsTTCATGAGC ENSP00000478716.1:n.413-2842_413-2834delinsTTCATGAGC
ENST00000563762.5:c.739-1033_739-1025delinsTTCATGAGC ENSP00000456346.1:n.739-1033_739-1025delinsTTCATGAGC
ENST00000566304.5:c.931_939delinsTTCATGAGC ENSP00000455114.1:p.Phe311=
ENST00000566672.5:c.*308_*316delinsTTCATGAGC ENSP00000457037.1:n.*308_*316delinsTTCATGAGC
ENST00000567027.5:c.770_778delinsTTCATGAGC
ENST00000567159.5:c.898_906delinsTTCATGAGC ENSP00000456489.1:p.Phe300=
ENST00000567411.5:c.*419_*427delinsTTCATGAGC ENSP00000455545.1:n.*419_*427delinsTTCATGAGC
ENST00000568777.5:n.6302_6310delinsTTCATGAGC
ENST00000569410.5:c.898_906delinsTTCATGAGC ENSP00000457125.1:p.Phe300=
NM_000520.4:c.898_906delinsTTCATGAGC NP_000511.2:p.Phe300=
NM_000520.5:c.898_906delinsTTCATGAGC NP_000511.2:p.Phe300=
NM_001318825.1:c.931_939delinsTTCATGAGC NP_001305754.1:p.Phe311=
NR_134869.1:n.1399_1407delinsTTCATGAGC
NM_000520.6:c.898_906delinsTTCATGAGC MANE Select NP_000511.2:p.Phe300=
NM_001318825.2:c.931_939delinsTTCATGAGC NP_001305754.1:p.Phe311=
NR_134869.2:n.940_948delinsTTCATGAGC
NR_134869.3:n.940_948delinsTTCATGAGC