Canonical Allele Identifier: CA2580613869
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2501085
ClinVar RCV Id: RCV003226682

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72348068_72348085del , CM000677.2:g.72348068_72348085del GRCh38
NC_000015.9:g.72640409_72640426del , CM000677.1:g.72640409_72640426del GRCh37
NC_000015.8:g.70427463_70427480del NCBI36
NG_009017.1:g.33098_33115del
NG_009017.2:g.33098_33115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.3385_3402del
ENST00000567027.6:c.1039_1056del ENSP00000457521.2:p.Asp347_Glu352del
ENST00000682061.1:c.*701_*718del ENSP00000508316.1:n.*701_*718del
ENST00000682177.1:c.1082_1099del ENSP00000507409.1:n.1082_1099del
ENST00000682461.1:c.1145_1162del ENSP00000507308.1:n.1145_1162del
ENST00000682653.1:n.1070_1087del
ENST00000682657.1:c.*449_*466del ENSP00000507753.1:n.*449_*466del
ENST00000682721.1:c.*842_*859del ENSP00000507535.1:n.*842_*859del
ENST00000682843.1:c.*937_*954del ENSP00000508173.1:n.*937_*954del
ENST00000683003.1:c.*449_*466del ENSP00000507576.1:n.*449_*466del
ENST00000683133.1:c.1223_1240del ENSP00000508108.1:n.1223_1240del
ENST00000683228.1:n.1070_1087del
ENST00000683243.1:c.*449_*466del ENSP00000507042.1:n.*449_*466del
ENST00000683463.1:c.1039_1056del ENSP00000507986.1:p.Asp347_Glu352del
ENST00000683548.1:n.1070_1087del
ENST00000683579.1:c.*937_*954del ENSP00000506867.1:n.*937_*954del
ENST00000683587.1:n.1070_1087del
ENST00000683681.1:c.1039_1056del ENSP00000508110.1:p.Asp347_Glu352del
ENST00000683735.1:c.*937_*954del ENSP00000508336.1:n.*937_*954del
ENST00000683742.1:n.870_887del
ENST00000683853.1:c.1039_1056del ENSP00000506834.1:p.Asp347_Glu352del
ENST00000683860.1:c.1039_1056del ENSP00000507179.1:p.Asp347_Glu352del
ENST00000683884.1:c.1039_1056del ENSP00000507004.1:p.Asp347_Glu352del
ENST00000684041.1:c.1039_1056del ENSP00000508382.1:p.Asp347_Glu352del
ENST00000684125.1:c.1039_1056del ENSP00000507320.1:p.Asp347_Glu352del
ENST00000684203.1:n.2877_2894del
ENST00000684231.1:c.*449_*466del ENSP00000507748.1:n.*449_*466del
ENST00000684263.1:c.1039_1056del ENSP00000508369.1:p.Asp347_Glu352del
ENST00000684305.1:c.1487_1504del ENSP00000506819.1:n.1487_1504del
ENST00000684415.1:c.1039_1056del ENSP00000507227.1:p.Asp347_Glu352del
ENST00000684520.1:c.1039_1056del ENSP00000506826.1:p.Asp347_Glu352del
ENST00000684602.1:c.*705_*722del ENSP00000507996.1:n.*705_*722del
ENST00000684667.1:c.1370_1387del ENSP00000507003.1:n.1370_1387del
ENST00000268097.10:c.1039_1056del MANE Select ENSP00000268097.6:p.Asp347_Glu352del
ENST00000268097.9:c.1039_1056del ENSP00000268097.5:p.Asp347_Glu352del
ENST00000379915.4:c.413-1757_413-1740del ENSP00000478716.1:n.413-1757_413-1740del
ENST00000563762.5:c.791_808del ENSP00000456346.1:n.791_808del
ENST00000566304.5:c.1072_1089del ENSP00000455114.1:p.Asp358_Glu363del
ENST00000566672.5:c.*449_*466del ENSP00000457037.1:n.*449_*466del
ENST00000567027.5:c.911_928del
ENST00000567159.5:c.1039_1056del ENSP00000456489.1:p.Asp347_Glu352del
ENST00000567411.5:c.*560_*577del ENSP00000455545.1:n.*560_*577del
ENST00000568777.5:n.6443_6460del
ENST00000569410.5:c.1039_1056del ENSP00000457125.1:p.Asp347_Glu352del
NM_000520.4:c.1039_1056del NP_000511.2:p.Asp347_Glu352del
NM_000520.5:c.1039_1056del NP_000511.2:p.Asp347_Glu352del
NM_001318825.1:c.1072_1089del NP_001305754.1:p.Asp358_Glu363del
NR_134869.1:n.1540_1557del
NM_000520.6:c.1039_1056del MANE Select NP_000511.2:p.Asp347_Glu352del
NM_001318825.2:c.1072_1089del NP_001305754.1:p.Asp358_Glu363del
NR_134869.2:n.1081_1098del
NR_134869.3:n.1081_1098del