Canonical Allele Identifier: CA2186744004

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347217_72347218delinsGT , CM000677.2:g.72347217_72347218delinsGT	GRCh38
NC_000015.9:g.72639558_72639559delinsGT , CM000677.1:g.72639558_72639559delinsGT	GRCh37
NC_000015.8:g.70426612_70426613delinsGT	NCBI36
NG_009017.1:g.33962_33963delinsAC
NG_009017.2:g.33962_33963delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+830_1073+831delinsAC	ENSP00000457521.2:n.1073+830_1073+831delinsAC
ENST00000682061.1:c.*808+468_*808+469delinsAC	ENSP00000508316.1:n.*808+468_*808+469delinsAC
ENST00000682177.1:c.1189+468_1189+469delinsAC	ENSP00000507409.1:n.1189+468_1189+469delinsAC
ENST00000682461.1:c.1252+468_1252+469delinsAC	ENSP00000507308.1:n.1252+468_1252+469delinsAC
ENST00000682653.1:n.1466+468_1466+469delinsAC
ENST00000682657.1:c.*483+830_*483+831delinsAC	ENSP00000507753.1:n.*483+830_*483+831delinsAC
ENST00000682721.1:c.*949+468_*949+469delinsAC	ENSP00000507535.1:n.*949+468_*949+469delinsAC
ENST00000682843.1:c.*971+830_*971+831delinsAC	ENSP00000508173.1:n.*971+830_*971+831delinsAC
ENST00000683003.1:c.*483+830_*483+831delinsAC	ENSP00000507576.1:n.*483+830_*483+831delinsAC
ENST00000683133.1:c.1330+468_1330+469delinsAC	ENSP00000508108.1:n.1330+468_1330+469delinsAC
ENST00000683243.1:c.*483+830_*483+831delinsAC	ENSP00000507042.1:n.*483+830_*483+831delinsAC
ENST00000683463.1:c.1074-508_1074-507delinsAC	ENSP00000507986.1:n.1074-508_1074-507delinsAC
ENST00000683548.1:n.1104+830_1104+831delinsAC
ENST00000683579.1:c.*1044+468_*1044+469delinsAC	ENSP00000506867.1:n.*1044+468_*1044+469delinsAC
ENST00000683587.1:n.1177+468_1177+469delinsAC
ENST00000683681.1:c.1146+468_1146+469delinsAC	ENSP00000508110.1:n.1146+468_1146+469delinsAC
ENST00000683735.1:c.*1044+468_*1044+469delinsAC	ENSP00000508336.1:n.*1044+468_*1044+469delinsAC
ENST00000683742.1:n.1445_1446delinsAC
ENST00000683853.1:c.1074-508_1074-507delinsAC	ENSP00000506834.1:n.1074-508_1074-507delinsAC
ENST00000683860.1:c.1146+468_1146+469delinsAC	ENSP00000507179.1:n.1146+468_1146+469delinsAC
ENST00000683884.1:c.1146+468_1146+469delinsAC	ENSP00000507004.1:n.1146+468_1146+469delinsAC
ENST00000684041.1:c.1146+468_1146+469delinsAC	ENSP00000508382.1:n.1146+468_1146+469delinsAC
ENST00000684125.1:c.1073+830_1073+831delinsAC	ENSP00000507320.1:n.1073+830_1073+831delinsAC
ENST00000684203.1:n.2912-508_2912-507delinsAC
ENST00000684231.1:c.*556+468_*556+469delinsAC	ENSP00000507748.1:n.*556+468_*556+469delinsAC
ENST00000684263.1:c.*86+468_*86+469delinsAC	ENSP00000508369.1:n.*86+468_*86+469delinsAC
ENST00000684305.1:c.1594+468_1594+469delinsAC	ENSP00000506819.1:n.1594+468_1594+469delinsAC
ENST00000684415.1:c.*14-508_*14-507delinsAC	ENSP00000507227.1:n.*14-508_*14-507delinsAC
ENST00000684520.1:c.1146+468_1146+469delinsAC	ENSP00000506826.1:n.1146+468_1146+469delinsAC
ENST00000684602.1:c.*812+468_*812+469delinsAC	ENSP00000507996.1:n.*812+468_*812+469delinsAC
ENST00000684667.1:c.1477+468_1477+469delinsAC	ENSP00000507003.1:n.1477+468_1477+469delinsAC
ENST00000268097.10:c.1146+468_1146+469delinsAC MANE Select	ENSP00000268097.6:n.1146+468_1146+469delinsAC
ENST00000268097.9:c.1146+468_1146+469delinsAC	ENSP00000268097.5:n.1146+468_1146+469delinsAC
ENST00000379915.4:c.413-893_413-892delinsAC	ENSP00000478716.1:n.413-893_413-892delinsAC
ENST00000563762.5:c.825+830_825+831delinsAC	ENSP00000456346.1:n.825+830_825+831delinsAC
ENST00000566304.5:c.1179+468_1179+469delinsAC	ENSP00000455114.1:n.1179+468_1179+469delinsAC
ENST00000566672.5:c.*556+468_*556+469delinsAC	ENSP00000457037.1:n.*556+468_*556+469delinsAC
ENST00000567027.5:c.945+830_945+831delinsAC
ENST00000567159.5:c.1146+468_1146+469delinsAC	ENSP00000456489.1:n.1146+468_1146+469delinsAC
ENST00000567411.5:c.*667+468_*667+469delinsAC	ENSP00000455545.1:n.*667+468_*667+469delinsAC
ENST00000568777.5:n.6550+468_6550+469delinsAC
ENST00000569410.5:c.1074-508_1074-507delinsAC	ENSP00000457125.1:n.1074-508_1074-507delinsAC
NM_000520.4:c.1146+468_1146+469delinsAC	NP_000511.2:n.1146+468_1146+469delinsAC
NM_000520.5:c.1146+468_1146+469delinsAC	NP_000511.2:n.1146+468_1146+469delinsAC
NM_001318825.1:c.1179+468_1179+469delinsAC	NP_001305754.1:n.1179+468_1179+469delinsAC
NR_134869.1:n.1574+830_1574+831delinsAC
NM_000520.6:c.1146+468_1146+469delinsAC MANE Select	NP_000511.2:n.1146+468_1146+469delinsAC
NM_001318825.2:c.1179+468_1179+469delinsAC	NP_001305754.1:n.1179+468_1179+469delinsAC
NR_134869.2:n.1115+830_1115+831delinsAC
NR_134869.3:n.1115+830_1115+831delinsAC