Canonical Allele Identifier: CA2186744041

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347258_72347259delinsAG , CM000677.2:g.72347258_72347259delinsAG	GRCh38
NC_000015.9:g.72639599_72639600delinsAG , CM000677.1:g.72639599_72639600delinsAG	GRCh37
NC_000015.8:g.70426653_70426654delinsAG	NCBI36
NG_009017.1:g.33921_33922delinsCT
NG_009017.2:g.33921_33922delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+789_1073+790delinsCT	ENSP00000457521.2:n.1073+789_1073+790delinsCT
ENST00000682061.1:c.*808+427_*808+428delinsCT	ENSP00000508316.1:n.*808+427_*808+428delinsCT
ENST00000682177.1:c.1189+427_1189+428delinsCT	ENSP00000507409.1:n.1189+427_1189+428delinsCT
ENST00000682461.1:c.1252+427_1252+428delinsCT	ENSP00000507308.1:n.1252+427_1252+428delinsCT
ENST00000682653.1:n.1466+427_1466+428delinsCT
ENST00000682657.1:c.*483+789_*483+790delinsCT	ENSP00000507753.1:n.*483+789_*483+790delinsCT
ENST00000682721.1:c.*949+427_*949+428delinsCT	ENSP00000507535.1:n.*949+427_*949+428delinsCT
ENST00000682843.1:c.*971+789_*971+790delinsCT	ENSP00000508173.1:n.*971+789_*971+790delinsCT
ENST00000683003.1:c.*483+789_*483+790delinsCT	ENSP00000507576.1:n.*483+789_*483+790delinsCT
ENST00000683133.1:c.1330+427_1330+428delinsCT	ENSP00000508108.1:n.1330+427_1330+428delinsCT
ENST00000683228.1:n.1604_1605delinsCT
ENST00000683243.1:c.*483+789_*483+790delinsCT	ENSP00000507042.1:n.*483+789_*483+790delinsCT
ENST00000683463.1:c.1074-549_1074-548delinsCT	ENSP00000507986.1:n.1074-549_1074-548delinsCT
ENST00000683548.1:n.1104+789_1104+790delinsCT
ENST00000683579.1:c.*1044+427_*1044+428delinsCT	ENSP00000506867.1:n.*1044+427_*1044+428delinsCT
ENST00000683587.1:n.1177+427_1177+428delinsCT
ENST00000683681.1:c.1146+427_1146+428delinsCT	ENSP00000508110.1:n.1146+427_1146+428delinsCT
ENST00000683735.1:c.*1044+427_*1044+428delinsCT	ENSP00000508336.1:n.*1044+427_*1044+428delinsCT
ENST00000683742.1:n.1404_1405delinsCT
ENST00000683853.1:c.1074-549_1074-548delinsCT	ENSP00000506834.1:n.1074-549_1074-548delinsCT
ENST00000683860.1:c.1146+427_1146+428delinsCT	ENSP00000507179.1:n.1146+427_1146+428delinsCT
ENST00000683884.1:c.1146+427_1146+428delinsCT	ENSP00000507004.1:n.1146+427_1146+428delinsCT
ENST00000684041.1:c.1146+427_1146+428delinsCT	ENSP00000508382.1:n.1146+427_1146+428delinsCT
ENST00000684125.1:c.1073+789_1073+790delinsCT	ENSP00000507320.1:n.1073+789_1073+790delinsCT
ENST00000684203.1:n.2912-549_2912-548delinsCT
ENST00000684231.1:c.*556+427_*556+428delinsCT	ENSP00000507748.1:n.*556+427_*556+428delinsCT
ENST00000684263.1:c.*86+427_*86+428delinsCT	ENSP00000508369.1:n.*86+427_*86+428delinsCT
ENST00000684305.1:c.1594+427_1594+428delinsCT	ENSP00000506819.1:n.1594+427_1594+428delinsCT
ENST00000684415.1:c.*14-549_*14-548delinsCT	ENSP00000507227.1:n.*14-549_*14-548delinsCT
ENST00000684520.1:c.1146+427_1146+428delinsCT	ENSP00000506826.1:n.1146+427_1146+428delinsCT
ENST00000684602.1:c.*812+427_*812+428delinsCT	ENSP00000507996.1:n.*812+427_*812+428delinsCT
ENST00000684667.1:c.1477+427_1477+428delinsCT	ENSP00000507003.1:n.1477+427_1477+428delinsCT
ENST00000268097.10:c.1146+427_1146+428delinsCT MANE Select	ENSP00000268097.6:n.1146+427_1146+428delinsCT
ENST00000268097.9:c.1146+427_1146+428delinsCT	ENSP00000268097.5:n.1146+427_1146+428delinsCT
ENST00000379915.4:c.413-934_413-933delinsCT	ENSP00000478716.1:n.413-934_413-933delinsCT
ENST00000563762.5:c.825+789_825+790delinsCT	ENSP00000456346.1:n.825+789_825+790delinsCT
ENST00000566304.5:c.1179+427_1179+428delinsCT	ENSP00000455114.1:n.1179+427_1179+428delinsCT
ENST00000566672.5:c.*556+427_*556+428delinsCT	ENSP00000457037.1:n.*556+427_*556+428delinsCT
ENST00000567027.5:c.945+789_945+790delinsCT
ENST00000567159.5:c.1146+427_1146+428delinsCT	ENSP00000456489.1:n.1146+427_1146+428delinsCT
ENST00000567411.5:c.*667+427_*667+428delinsCT	ENSP00000455545.1:n.*667+427_*667+428delinsCT
ENST00000568777.5:n.6550+427_6550+428delinsCT
ENST00000569410.5:c.1074-549_1074-548delinsCT	ENSP00000457125.1:n.1074-549_1074-548delinsCT
NM_000520.4:c.1146+427_1146+428delinsCT	NP_000511.2:n.1146+427_1146+428delinsCT
NM_000520.5:c.1146+427_1146+428delinsCT	NP_000511.2:n.1146+427_1146+428delinsCT
NM_001318825.1:c.1179+427_1179+428delinsCT	NP_001305754.1:n.1179+427_1179+428delinsCT
NR_134869.1:n.1574+789_1574+790delinsCT
NM_000520.6:c.1146+427_1146+428delinsCT MANE Select	NP_000511.2:n.1146+427_1146+428delinsCT
NM_001318825.2:c.1179+427_1179+428delinsCT	NP_001305754.1:n.1179+427_1179+428delinsCT
NR_134869.2:n.1115+789_1115+790delinsCT
NR_134869.3:n.1115+789_1115+790delinsCT