Canonical Allele Identifier: CA2186743748
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346707_72346708delinsGA , CM000677.2:g.72346707_72346708delinsGA GRCh38
NC_000015.9:g.72639048_72639049delinsGA , CM000677.1:g.72639048_72639049delinsGA GRCh37
NC_000015.8:g.70426102_70426103delinsGA NCBI36
NG_009017.1:g.34472_34473delinsTC
NG_009017.2:g.34472_34473delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.1074-383_1074-382delinsTC ENSP00000457521.2:n.1074-383_1074-382deli...
ENST00000682061.1:c.*811_*812delinsTC ENSP00000508316.1:n.*811_*812delinsTC
ENST00000682064.1:n.491_492delinsTC
ENST00000682177.1:c.1192_1193delinsTC ENSP00000507409.1:n.1192_1193delinsTC
ENST00000682235.1:n.488_489delinsTC
ENST00000682461.1:c.1255_1256delinsTC ENSP00000507308.1:n.1255_1256delinsTC
ENST00000682653.1:n.1469_1470delinsTC
ENST00000682657.1:c.*484-383_*484-382delinsTC ENSP00000507753.1:n.*484-383_*484-382deli...
ENST00000682721.1:c.*952_*953delinsTC ENSP00000507535.1:n.*952_*953delinsTC
ENST00000682843.1:c.*972-383_*972-382delinsTC ENSP00000508173.1:n.*972-383_*972-382deli...
ENST00000683003.1:c.*484-383_*484-382delinsTC ENSP00000507576.1:n.*484-383_*484-382deli...
ENST00000683133.1:c.1333_1334delinsTC ENSP00000508108.1:n.1333_1334delinsTC
ENST00000683243.1:c.*484-383_*484-382delinsTC ENSP00000507042.1:n.*484-383_*484-382deli...
ENST00000683463.1:c.1076_1077delinsTC ENSP00000507986.1:p.Phe359=
ENST00000683548.1:n.1105-383_1105-382delinsTC
ENST00000683579.1:c.*1047_*1048delinsTC ENSP00000506867.1:n.*1047_*1048delinsTC
ENST00000683587.1:n.1178-383_1178-382delinsTC
ENST00000683681.1:c.1149_1150delinsTC ENSP00000508110.1:p.Ile383=
ENST00000683735.1:c.*1045-383_*1045-382delinsTC ENSP00000508336.1:n.*1045-383_*1045-382de...
ENST00000683853.1:c.1076_1077delinsTC ENSP00000506834.1:p.Phe359=
ENST00000683860.1:c.1149_1150delinsTC ENSP00000507179.1:p.Ile383=
ENST00000683884.1:c.1147-383_1147-382delinsTC ENSP00000507004.1:n.1147-383_1147-382deli...
ENST00000684041.1:c.1149_1150delinsTC ENSP00000508382.1:p.Ile383=
ENST00000684125.1:c.1074-383_1074-382delinsTC ENSP00000507320.1:n.1074-383_1074-382deli...
ENST00000684203.1:n.2914_2915delinsTC
ENST00000684231.1:c.*559_*560delinsTC ENSP00000507748.1:n.*559_*560delinsTC
ENST00000684263.1:c.*89_*90delinsTC ENSP00000508369.1:n.*89_*90delinsTC
ENST00000684305.1:c.1597_1598delinsTC ENSP00000506819.1:n.1597_1598delinsTC
ENST00000684415.1:c.*16_*17delinsTC ENSP00000507227.1:n.*16_*17delinsTC
ENST00000684520.1:c.1149_1150delinsTC ENSP00000506826.1:p.Ile383=
ENST00000684602.1:c.*815_*816delinsTC ENSP00000507996.1:n.*815_*816delinsTC
ENST00000684667.1:c.1480_1481delinsTC ENSP00000507003.1:n.1480_1481delinsTC
ENST00000268097.10:c.1149_1150delinsTC MANE Select ENSP00000268097.6:p.Ile383=
ENST00000268097.9:c.1149_1150delinsTC ENSP00000268097.5:p.Ile383=
ENST00000379915.4:c.413-383_413-382delinsTC ENSP00000478716.1:n.413-383_413-382delins...
ENST00000563762.5:c.826-383_826-382delinsTC ENSP00000456346.1:n.826-383_826-382delins...
ENST00000566304.5:c.1182_1183delinsTC ENSP00000455114.1:p.Ile394=
ENST00000566672.5:c.*559_*560delinsTC ENSP00000457037.1:n.*559_*560delinsTC
ENST00000567027.5:c.946-383_946-382delinsTC
ENST00000567159.5:c.1149_1150delinsTC ENSP00000456489.1:p.Ile383=
ENST00000567411.5:c.*670_*671delinsTC ENSP00000455545.1:n.*670_*671delinsTC
ENST00000568777.5:n.6551-383_6551-382delinsTC
ENST00000569410.5:c.1076_1077delinsTC ENSP00000457125.1:p.Phe359=
NM_000520.4:c.1149_1150delinsTC NP_000511.2:p.Ile383=
NM_000520.5:c.1149_1150delinsTC NP_000511.2:p.Ile383=
NM_001318825.1:c.1182_1183delinsTC NP_001305754.1:p.Ile394=
NR_134869.1:n.1575-383_1575-382delinsTC
NM_000520.6:c.1149_1150delinsTC MANE Select NP_000511.2:p.Ile383=
NM_001318825.2:c.1182_1183delinsTC NP_001305754.1:p.Ile394=
NR_134869.2:n.1116-383_1116-382delinsTC
NR_134869.3:n.1116-383_1116-382delinsTC