Canonical Allele Identifier: CA2186744048

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347282_72347290delinsGGTTTTTTT , CM000677.2:g.72347282_72347290delinsGGTTTTTTT	GRCh38
NC_000015.9:g.72639623_72639631delinsGGTTTTTTT , CM000677.1:g.72639623_72639631delinsGGTTTTTTT	GRCh37
NC_000015.8:g.70426677_70426685delinsGGTTTTTTT	NCBI36
NG_009017.1:g.33890_33898delinsAAAAAAACC
NG_009017.2:g.33890_33898delinsAAAAAAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+758_1073+766delinsAAAAAAACC	ENSP00000457521.2:n.1073+758_1073+766delinsAAAAAAACC
ENST00000682061.1:c.*808+396_*808+404delinsAAAAAAACC	ENSP00000508316.1:n.*808+396_*808+404delinsAAAAAAACC
ENST00000682177.1:c.1189+396_1189+404delinsAAAAAAACC	ENSP00000507409.1:n.1189+396_1189+404delinsAAAAAAACC
ENST00000682461.1:c.1252+396_1252+404delinsAAAAAAACC	ENSP00000507308.1:n.1252+396_1252+404delinsAAAAAAACC
ENST00000682653.1:n.1466+396_1466+404delinsAAAAAAACC
ENST00000682657.1:c.*483+758_*483+766delinsAAAAAAACC	ENSP00000507753.1:n.*483+758_*483+766delinsAAAAAAACC
ENST00000682721.1:c.*949+396_*949+404delinsAAAAAAACC	ENSP00000507535.1:n.*949+396_*949+404delinsAAAAAAACC
ENST00000682843.1:c.*971+758_*971+766delinsAAAAAAACC	ENSP00000508173.1:n.*971+758_*971+766delinsAAAAAAACC
ENST00000683003.1:c.*483+758_*483+766delinsAAAAAAACC	ENSP00000507576.1:n.*483+758_*483+766delinsAAAAAAACC
ENST00000683133.1:c.1330+396_1330+404delinsAAAAAAACC	ENSP00000508108.1:n.1330+396_1330+404delinsAAAAAAACC
ENST00000683228.1:n.1573_1581delinsAAAAAAACC
ENST00000683243.1:c.*483+758_*483+766delinsAAAAAAACC	ENSP00000507042.1:n.*483+758_*483+766delinsAAAAAAACC
ENST00000683463.1:c.1074-580_1074-572delinsAAAAAAACC	ENSP00000507986.1:n.1074-580_1074-572delinsAAAAAAACC
ENST00000683548.1:n.1104+758_1104+766delinsAAAAAAACC
ENST00000683579.1:c.*1044+396_*1044+404delinsAAAAAAACC	ENSP00000506867.1:n.*1044+396_*1044+404delinsAAAAAAACC
ENST00000683587.1:n.1177+396_1177+404delinsAAAAAAACC
ENST00000683681.1:c.1146+396_1146+404delinsAAAAAAACC	ENSP00000508110.1:n.1146+396_1146+404delinsAAAAAAACC
ENST00000683735.1:c.*1044+396_*1044+404delinsAAAAAAACC	ENSP00000508336.1:n.*1044+396_*1044+404delinsAAAAAAACC
ENST00000683742.1:n.1373_1381delinsAAAAAAACC
ENST00000683853.1:c.1074-580_1074-572delinsAAAAAAACC	ENSP00000506834.1:n.1074-580_1074-572delinsAAAAAAACC
ENST00000683860.1:c.1146+396_1146+404delinsAAAAAAACC	ENSP00000507179.1:n.1146+396_1146+404delinsAAAAAAACC
ENST00000683884.1:c.1146+396_1146+404delinsAAAAAAACC	ENSP00000507004.1:n.1146+396_1146+404delinsAAAAAAACC
ENST00000684041.1:c.1146+396_1146+404delinsAAAAAAACC	ENSP00000508382.1:n.1146+396_1146+404delinsAAAAAAACC
ENST00000684125.1:c.1073+758_1073+766delinsAAAAAAACC	ENSP00000507320.1:n.1073+758_1073+766delinsAAAAAAACC
ENST00000684203.1:n.2912-580_2912-572delinsAAAAAAACC
ENST00000684231.1:c.*556+396_*556+404delinsAAAAAAACC	ENSP00000507748.1:n.*556+396_*556+404delinsAAAAAAACC
ENST00000684263.1:c.*86+396_*86+404delinsAAAAAAACC	ENSP00000508369.1:n.*86+396_*86+404delinsAAAAAAACC
ENST00000684305.1:c.1594+396_1594+404delinsAAAAAAACC	ENSP00000506819.1:n.1594+396_1594+404delinsAAAAAAACC
ENST00000684415.1:c.*14-580_*14-572delinsAAAAAAACC	ENSP00000507227.1:n.*14-580_*14-572delinsAAAAAAACC
ENST00000684520.1:c.1146+396_1146+404delinsAAAAAAACC	ENSP00000506826.1:n.1146+396_1146+404delinsAAAAAAACC
ENST00000684602.1:c.*812+396_*812+404delinsAAAAAAACC	ENSP00000507996.1:n.*812+396_*812+404delinsAAAAAAACC
ENST00000684667.1:c.1477+396_1477+404delinsAAAAAAACC	ENSP00000507003.1:n.1477+396_1477+404delinsAAAAAAACC
ENST00000268097.10:c.1146+396_1146+404delinsAAAAAAACC MANE Select	ENSP00000268097.6:n.1146+396_1146+404delinsAAAAAAACC
ENST00000268097.9:c.1146+396_1146+404delinsAAAAAAACC	ENSP00000268097.5:n.1146+396_1146+404delinsAAAAAAACC
ENST00000379915.4:c.413-965_413-957delinsAAAAAAACC	ENSP00000478716.1:n.413-965_413-957delinsAAAAAAACC
ENST00000563762.5:c.825+758_825+766delinsAAAAAAACC	ENSP00000456346.1:n.825+758_825+766delinsAAAAAAACC
ENST00000566304.5:c.1179+396_1179+404delinsAAAAAAACC	ENSP00000455114.1:n.1179+396_1179+404delinsAAAAAAACC
ENST00000566672.5:c.*556+396_*556+404delinsAAAAAAACC	ENSP00000457037.1:n.*556+396_*556+404delinsAAAAAAACC
ENST00000567027.5:c.945+758_945+766delinsAAAAAAACC
ENST00000567159.5:c.1146+396_1146+404delinsAAAAAAACC	ENSP00000456489.1:n.1146+396_1146+404delinsAAAAAAACC
ENST00000567411.5:c.*667+396_*667+404delinsAAAAAAACC	ENSP00000455545.1:n.*667+396_*667+404delinsAAAAAAACC
ENST00000568777.5:n.6550+396_6550+404delinsAAAAAAACC
ENST00000569410.5:c.1074-580_1074-572delinsAAAAAAACC	ENSP00000457125.1:n.1074-580_1074-572delinsAAAAAAACC
NM_000520.4:c.1146+396_1146+404delinsAAAAAAACC	NP_000511.2:n.1146+396_1146+404delinsAAAAAAACC
NM_000520.5:c.1146+396_1146+404delinsAAAAAAACC	NP_000511.2:n.1146+396_1146+404delinsAAAAAAACC
NM_001318825.1:c.1179+396_1179+404delinsAAAAAAACC	NP_001305754.1:n.1179+396_1179+404delinsAAAAAAACC
NR_134869.1:n.1574+758_1574+766delinsAAAAAAACC
NM_000520.6:c.1146+396_1146+404delinsAAAAAAACC MANE Select	NP_000511.2:n.1146+396_1146+404delinsAAAAAAACC
NM_001318825.2:c.1179+396_1179+404delinsAAAAAAACC	NP_001305754.1:n.1179+396_1179+404delinsAAAAAAACC
NR_134869.2:n.1115+758_1115+766delinsAAAAAAACC
NR_134869.3:n.1115+758_1115+766delinsAAAAAAACC