Canonical Allele Identifier: CA2186744297

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347781_72347789delinsGTAAGTGTC , CM000677.2:g.72347781_72347789delinsGTAAGTGTC	GRCh38
NC_000015.9:g.72640122_72640130delinsGTAAGTGTC , CM000677.1:g.72640122_72640130delinsGTAAGTGTC	GRCh37
NC_000015.8:g.70427176_70427184delinsGTAAGTGTC	NCBI36
NG_009017.1:g.33391_33399delinsGACACTTAC
NG_009017.2:g.33391_33399delinsGACACTTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+259_1073+267delinsGACACTTAC	ENSP00000457521.2:n.1073+259_1073+267delinsGACACTTAC
ENST00000682061.1:c.*736-31_*736-23delinsGACACTTAC	ENSP00000508316.1:n.*736-31_*736-23delinsGACACTTAC
ENST00000682177.1:c.1117-31_1117-23delinsGACACTTAC	ENSP00000507409.1:n.1117-31_1117-23delinsGACACTTAC
ENST00000682461.1:c.1180-31_1180-23delinsGACACTTAC	ENSP00000507308.1:n.1180-31_1180-23delinsGACACTTAC
ENST00000682653.1:n.1363_1371delinsGACACTTAC
ENST00000682657.1:c.*483+259_*483+267delinsGACACTTAC	ENSP00000507753.1:n.*483+259_*483+267delinsGACACTTAC
ENST00000682721.1:c.*877-31_*877-23delinsGACACTTAC	ENSP00000507535.1:n.*877-31_*877-23delinsGACACTTAC
ENST00000682843.1:c.*971+259_*971+267delinsGACACTTAC	ENSP00000508173.1:n.*971+259_*971+267delinsGACACTTAC
ENST00000683003.1:c.*483+259_*483+267delinsGACACTTAC	ENSP00000507576.1:n.*483+259_*483+267delinsGACACTTAC
ENST00000683133.1:c.1258-31_1258-23delinsGACACTTAC	ENSP00000508108.1:n.1258-31_1258-23delinsGACACTTAC
ENST00000683228.1:n.1105-31_1105-23delinsGACACTTAC
ENST00000683243.1:c.*483+259_*483+267delinsGACACTTAC	ENSP00000507042.1:n.*483+259_*483+267delinsGACACTTAC
ENST00000683463.1:c.1073+259_1073+267delinsGACACTTAC	ENSP00000507986.1:n.1073+259_1073+267delinsGACACTTAC
ENST00000683548.1:n.1104+259_1104+267delinsGACACTTAC
ENST00000683579.1:c.*972-31_*972-23delinsGACACTTAC	ENSP00000506867.1:n.*972-31_*972-23delinsGACACTTAC
ENST00000683587.1:n.1105-31_1105-23delinsGACACTTAC
ENST00000683681.1:c.1074-31_1074-23delinsGACACTTAC	ENSP00000508110.1:n.1074-31_1074-23delinsGACACTTAC
ENST00000683735.1:c.*972-31_*972-23delinsGACACTTAC	ENSP00000508336.1:n.*972-31_*972-23delinsGACACTTAC
ENST00000683742.1:n.905-31_905-23delinsGACACTTAC
ENST00000683853.1:c.1073+259_1073+267delinsGACACTTAC	ENSP00000506834.1:n.1073+259_1073+267delinsGACACTTAC
ENST00000683860.1:c.1074-31_1074-23delinsGACACTTAC	ENSP00000507179.1:n.1074-31_1074-23delinsGACACTTAC
ENST00000683884.1:c.1074-31_1074-23delinsGACACTTAC	ENSP00000507004.1:n.1074-31_1074-23delinsGACACTTAC
ENST00000684041.1:c.1074-31_1074-23delinsGACACTTAC	ENSP00000508382.1:n.1074-31_1074-23delinsGACACTTAC
ENST00000684125.1:c.1073+259_1073+267delinsGACACTTAC	ENSP00000507320.1:n.1073+259_1073+267delinsGACACTTAC
ENST00000684203.1:n.2911+259_2911+267delinsGACACTTAC
ENST00000684231.1:c.*484-31_*484-23delinsGACACTTAC	ENSP00000507748.1:n.*484-31_*484-23delinsGACACTTAC
ENST00000684263.1:c.*14-31_*14-23delinsGACACTTAC	ENSP00000508369.1:n.*14-31_*14-23delinsGACACTTAC
ENST00000684305.1:c.1522-31_1522-23delinsGACACTTAC	ENSP00000506819.1:n.1522-31_1522-23delinsGACACTTAC
ENST00000684415.1:c.*13+242_*13+250delinsGACACTTAC	ENSP00000507227.1:n.*13+242_*13+250delinsGACACTTAC
ENST00000684520.1:c.1074-31_1074-23delinsGACACTTAC	ENSP00000506826.1:n.1074-31_1074-23delinsGACACTTAC
ENST00000684602.1:c.*740-31_*740-23delinsGACACTTAC	ENSP00000507996.1:n.*740-31_*740-23delinsGACACTTAC
ENST00000684667.1:c.1405-31_1405-23delinsGACACTTAC	ENSP00000507003.1:n.1405-31_1405-23delinsGACACTTAC
ENST00000268097.10:c.1074-31_1074-23delinsGACACTTAC MANE Select	ENSP00000268097.6:n.1074-31_1074-23delinsGACACTTAC
ENST00000268097.9:c.1074-31_1074-23delinsGACACTTAC	ENSP00000268097.5:n.1074-31_1074-23delinsGACACTTAC
ENST00000379915.4:c.413-1464_413-1456delinsGACACTTAC	ENSP00000478716.1:n.413-1464_413-1456delinsGACACTTAC
ENST00000563762.5:c.825+259_825+267delinsGACACTTAC	ENSP00000456346.1:n.825+259_825+267delinsGACACTTAC
ENST00000566304.5:c.1107-31_1107-23delinsGACACTTAC	ENSP00000455114.1:n.1107-31_1107-23delinsGACACTTAC
ENST00000566672.5:c.*484-31_*484-23delinsGACACTTAC	ENSP00000457037.1:n.*484-31_*484-23delinsGACACTTAC
ENST00000567027.5:c.945+259_945+267delinsGACACTTAC
ENST00000567159.5:c.1074-31_1074-23delinsGACACTTAC	ENSP00000456489.1:n.1074-31_1074-23delinsGACACTTAC
ENST00000567411.5:c.*595-31_*595-23delinsGACACTTAC	ENSP00000455545.1:n.*595-31_*595-23delinsGACACTTAC
ENST00000568777.5:n.6478-31_6478-23delinsGACACTTAC
ENST00000569410.5:c.1073+259_1073+267delinsGACACTTAC	ENSP00000457125.1:n.1073+259_1073+267delinsGACACTTAC
NM_000520.4:c.1074-31_1074-23delinsGACACTTAC	NP_000511.2:n.1074-31_1074-23delinsGACACTTAC
NM_000520.5:c.1074-31_1074-23delinsGACACTTAC	NP_000511.2:n.1074-31_1074-23delinsGACACTTAC
NM_001318825.1:c.1107-31_1107-23delinsGACACTTAC	NP_001305754.1:n.1107-31_1107-23delinsGACACTTAC
NR_134869.1:n.1574+259_1574+267delinsGACACTTAC
NM_000520.6:c.1074-31_1074-23delinsGACACTTAC MANE Select	NP_000511.2:n.1074-31_1074-23delinsGACACTTAC
NM_001318825.2:c.1107-31_1107-23delinsGACACTTAC	NP_001305754.1:n.1107-31_1107-23delinsGACACTTAC
NR_134869.2:n.1115+259_1115+267delinsGACACTTAC
NR_134869.3:n.1115+259_1115+267delinsGACACTTAC