Canonical Allele Identifier: CA491117051
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346579_72346580insATA , CM000677.2:g.72346579_72346580insATA GRCh38
NC_000015.9:g.72638920_72638921insATA , CM000677.1:g.72638920_72638921insATA GRCh37
NC_000015.8:g.70425974_70425975insATA NCBI36
NG_009017.1:g.34600_34601insTAT
NG_009017.2:g.34600_34601insTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-255_1074-254insTAT ENSP00000457521.2:n.1074-255_1074-254insTAT
ENST00000682061.1:c.*939_*940insTAT ENSP00000508316.1:n.*939_*940insTAT
ENST00000682064.1:n.619_620insTAT
ENST00000682177.1:c.1320_1321insTAT ENSP00000507409.1:n.1320_1321insTAT
ENST00000682235.1:n.616_617insTAT
ENST00000682461.1:c.1383_1384insTAT ENSP00000507308.1:n.1383_1384insTAT
ENST00000682653.1:n.1597_1598insTAT
ENST00000682657.1:c.*484-255_*484-254insTAT ENSP00000507753.1:n.*484-255_*484-254insTAT
ENST00000682721.1:c.*1080_*1081insTAT ENSP00000507535.1:n.*1080_*1081insTAT
ENST00000682843.1:c.*972-255_*972-254insTAT ENSP00000508173.1:n.*972-255_*972-254insTAT
ENST00000683003.1:c.*484-255_*484-254insTAT ENSP00000507576.1:n.*484-255_*484-254insTAT
ENST00000683133.1:c.1461_1462insTAT ENSP00000508108.1:n.1461_1462insTAT
ENST00000683243.1:c.*484-255_*484-254insTAT ENSP00000507042.1:n.*484-255_*484-254insTAT
ENST00000683463.1:c.*82_*83insTAT ENSP00000507986.1:n.*82_*83insTAT
ENST00000683548.1:n.1105-255_1105-254insTAT
ENST00000683579.1:c.*1175_*1176insTAT ENSP00000506867.1:n.*1175_*1176insTAT
ENST00000683587.1:n.1178-255_1178-254insTAT
ENST00000683681.1:c.1277_1278insTAT ENSP00000508110.1:p.Ser426_Tyr427insIle
ENST00000683735.1:c.*1045-255_*1045-254insTAT ENSP00000508336.1:n.*1045-255_*1045-254insTAT
ENST00000683853.1:c.*82_*83insTAT ENSP00000506834.1:n.*82_*83insTAT
ENST00000683860.1:c.1277_1278insTAT ENSP00000507179.1:p.Ser426_Tyr427insIle
ENST00000683884.1:c.1147-255_1147-254insTAT ENSP00000507004.1:n.1147-255_1147-254insTAT
ENST00000684041.1:c.1277_1278insTAT ENSP00000508382.1:p.Ser426_Tyr427insIle
ENST00000684125.1:c.1074-255_1074-254insTAT ENSP00000507320.1:n.1074-255_1074-254insTAT
ENST00000684203.1:n.3042_3043insTAT
ENST00000684231.1:c.*687_*688insTAT ENSP00000507748.1:n.*687_*688insTAT
ENST00000684263.1:c.*217_*218insTAT ENSP00000508369.1:n.*217_*218insTAT
ENST00000684305.1:c.1725_1726insTAT ENSP00000506819.1:n.1725_1726insTAT
ENST00000684415.1:c.*144_*145insTAT ENSP00000507227.1:n.*144_*145insTAT
ENST00000684520.1:c.1277_1278insTAT ENSP00000506826.1:p.Ser426_Tyr427insIle
ENST00000684602.1:c.*943_*944insTAT ENSP00000507996.1:n.*943_*944insTAT
ENST00000684667.1:c.1608_1609insTAT ENSP00000507003.1:n.1608_1609insTAT
ENST00000268097.10:c.1277_1278insTAT MANE Select ENSP00000268097.6:p.Ser426_Tyr427insIle
ENST00000268097.9:c.1277_1278insTAT ENSP00000268097.5:p.Ser426_Tyr427insIle
ENST00000379915.4:c.413-255_413-254insTAT ENSP00000478716.1:n.413-255_413-254insTAT
ENST00000563762.5:c.826-255_826-254insTAT ENSP00000456346.1:n.826-255_826-254insTAT
ENST00000566304.5:c.1310_1311insTAT ENSP00000455114.1:p.Ser437_Tyr438insIle
ENST00000566672.5:c.*687_*688insTAT ENSP00000457037.1:n.*687_*688insTAT
ENST00000567027.5:c.946-255_946-254insTAT
ENST00000567159.5:c.1277_1278insTAT ENSP00000456489.1:p.Ser426_Tyr427insIle
ENST00000567411.5:c.*798_*799insTAT ENSP00000455545.1:n.*798_*799insTAT
ENST00000568777.5:n.6551-255_6551-254insTAT
ENST00000569410.5:c.*82_*83insTAT ENSP00000457125.1:n.*82_*83insTAT
NM_000520.4:c.1277_1278insTAT NP_000511.2:p.Ser426_Tyr427insIle
NM_000520.5:c.1277_1278insTAT NP_000511.2:p.Ser426_Tyr427insIle
NM_001318825.1:c.1310_1311insTAT NP_001305754.1:p.Ser437_Tyr438insIle
NR_134869.1:n.1575-255_1575-254insTAT
NM_000520.6:c.1277_1278insTAT MANE Select NP_000511.2:p.Ser426_Tyr427insIle
NM_001318825.2:c.1310_1311insTAT NP_001305754.1:p.Ser437_Tyr438insIle
NR_134869.2:n.1116-255_1116-254insTAT
NR_134869.3:n.1116-255_1116-254insTAT