Canonical Allele Identifier: CA2186743720
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346650_72346653delinsCCTT , CM000677.2:g.72346650_72346653delinsCCTT GRCh38
NC_000015.9:g.72638991_72638994delinsCCTT , CM000677.1:g.72638991_72638994delinsCCTT GRCh37
NC_000015.8:g.70426045_70426048delinsCCTT NCBI36
NG_009017.1:g.34527_34530delinsAAGG
NG_009017.2:g.34527_34530delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-328_1074-325delinsAAGG ENSP00000457521.2:n.1074-328_1074-325delinsAAGG
ENST00000682061.1:c.*866_*869delinsAAGG ENSP00000508316.1:n.*866_*869delinsAAGG
ENST00000682064.1:n.546_549delinsAAGG
ENST00000682177.1:c.1247_1250delinsAAGG ENSP00000507409.1:n.1247_1250delinsAAGG
ENST00000682235.1:n.543_546delinsAAGG
ENST00000682461.1:c.1310_1313delinsAAGG ENSP00000507308.1:n.1310_1313delinsAAGG
ENST00000682653.1:n.1524_1527delinsAAGG
ENST00000682657.1:c.*484-328_*484-325delinsAAGG ENSP00000507753.1:n.*484-328_*484-325delinsAAGG
ENST00000682721.1:c.*1007_*1010delinsAAGG ENSP00000507535.1:n.*1007_*1010delinsAAGG
ENST00000682843.1:c.*972-328_*972-325delinsAAGG ENSP00000508173.1:n.*972-328_*972-325delinsAAGG
ENST00000683003.1:c.*484-328_*484-325delinsAAGG ENSP00000507576.1:n.*484-328_*484-325delinsAAGG
ENST00000683133.1:c.1388_1391delinsAAGG ENSP00000508108.1:n.1388_1391delinsAAGG
ENST00000683243.1:c.*484-328_*484-325delinsAAGG ENSP00000507042.1:n.*484-328_*484-325delinsAAGG
ENST00000683463.1:c.*9_*12delinsAAGG ENSP00000507986.1:n.*9_*12delinsAAGG
ENST00000683548.1:n.1105-328_1105-325delinsAAGG
ENST00000683579.1:c.*1102_*1105delinsAAGG ENSP00000506867.1:n.*1102_*1105delinsAAGG
ENST00000683587.1:n.1178-328_1178-325delinsAAGG
ENST00000683681.1:c.1204_1207delinsAAGG ENSP00000508110.1:p.Lys402=
ENST00000683735.1:c.*1045-328_*1045-325delinsAAGG ENSP00000508336.1:n.*1045-328_*1045-325delinsAAGG
ENST00000683853.1:c.*9_*12delinsAAGG ENSP00000506834.1:n.*9_*12delinsAAGG
ENST00000683860.1:c.1204_1207delinsAAGG ENSP00000507179.1:p.Lys402=
ENST00000683884.1:c.1147-328_1147-325delinsAAGG ENSP00000507004.1:n.1147-328_1147-325delinsAAGG
ENST00000684041.1:c.1204_1207delinsAAGG ENSP00000508382.1:p.Lys402=
ENST00000684125.1:c.1074-328_1074-325delinsAAGG ENSP00000507320.1:n.1074-328_1074-325delinsAAGG
ENST00000684203.1:n.2969_2972delinsAAGG
ENST00000684231.1:c.*614_*617delinsAAGG ENSP00000507748.1:n.*614_*617delinsAAGG
ENST00000684263.1:c.*144_*147delinsAAGG ENSP00000508369.1:n.*144_*147delinsAAGG
ENST00000684305.1:c.1652_1655delinsAAGG ENSP00000506819.1:n.1652_1655delinsAAGG
ENST00000684415.1:c.*71_*74delinsAAGG ENSP00000507227.1:n.*71_*74delinsAAGG
ENST00000684520.1:c.1204_1207delinsAAGG ENSP00000506826.1:p.Lys402=
ENST00000684602.1:c.*870_*873delinsAAGG ENSP00000507996.1:n.*870_*873delinsAAGG
ENST00000684667.1:c.1535_1538delinsAAGG ENSP00000507003.1:n.1535_1538delinsAAGG
ENST00000268097.10:c.1204_1207delinsAAGG MANE Select ENSP00000268097.6:p.Lys402=
ENST00000268097.9:c.1204_1207delinsAAGG ENSP00000268097.5:p.Lys402=
ENST00000379915.4:c.413-328_413-325delinsAAGG ENSP00000478716.1:n.413-328_413-325delinsAAGG
ENST00000563762.5:c.826-328_826-325delinsAAGG ENSP00000456346.1:n.826-328_826-325delinsAAGG
ENST00000566304.5:c.1237_1240delinsAAGG ENSP00000455114.1:p.Lys413=
ENST00000566672.5:c.*614_*617delinsAAGG ENSP00000457037.1:n.*614_*617delinsAAGG
ENST00000567027.5:c.946-328_946-325delinsAAGG
ENST00000567159.5:c.1204_1207delinsAAGG ENSP00000456489.1:p.Lys402=
ENST00000567411.5:c.*725_*728delinsAAGG ENSP00000455545.1:n.*725_*728delinsAAGG
ENST00000568777.5:n.6551-328_6551-325delinsAAGG
ENST00000569410.5:c.*9_*12delinsAAGG ENSP00000457125.1:n.*9_*12delinsAAGG
NM_000520.4:c.1204_1207delinsAAGG NP_000511.2:p.Lys402=
NM_000520.5:c.1204_1207delinsAAGG NP_000511.2:p.Lys402=
NM_001318825.1:c.1237_1240delinsAAGG NP_001305754.1:p.Lys413=
NR_134869.1:n.1575-328_1575-325delinsAAGG
NM_000520.6:c.1204_1207delinsAAGG MANE Select NP_000511.2:p.Lys402=
NM_001318825.2:c.1237_1240delinsAAGG NP_001305754.1:p.Lys413=
NR_134869.2:n.1116-328_1116-325delinsAAGG
NR_134869.3:n.1116-328_1116-325delinsAAGG