Canonical Allele Identifier: CA2831810866

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347210_72347211insTTTTTTTTTTTTTT , CM000677.2:g.72347210_72347211insTTTTTTTTTTTTTT	GRCh38
NC_000015.9:g.72639551_72639552insTTTTTTTTTTTTTT , CM000677.1:g.72639551_72639552insTTTTTTTTTTTTTT	GRCh37
NC_000015.8:g.70426605_70426606insTTTTTTTTTTTTTT	NCBI36
NG_009017.1:g.33971_33972insAAAAAAAAAAAAAA
NG_009017.2:g.33971_33972insAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+839_1073+840insAAAAAAAAAAAAAA	ENSP00000457521.2:n.1073+839_1073+840insAAAAAAAAAAAAAA
ENST00000682061.1:c.*808+477_*808+478insAAAAAAAAAAAAAA	ENSP00000508316.1:n.*808+477_*808+478insAAAAAAAAAAAAAA
ENST00000682177.1:c.1189+477_1189+478insAAAAAAAAAAAAAA	ENSP00000507409.1:n.1189+477_1189+478insAAAAAAAAAAAAAA
ENST00000682461.1:c.1252+477_1252+478insAAAAAAAAAAAAAA	ENSP00000507308.1:n.1252+477_1252+478insAAAAAAAAAAAAAA
ENST00000682653.1:n.1466+477_1466+478insAAAAAAAAAAAAAA
ENST00000682657.1:c.*483+839_*483+840insAAAAAAAAAAAAAA	ENSP00000507753.1:n.*483+839_*483+840insAAAAAAAAAAAAAA
ENST00000682721.1:c.*949+477_*949+478insAAAAAAAAAAAAAA	ENSP00000507535.1:n.*949+477_*949+478insAAAAAAAAAAAAAA
ENST00000682843.1:c.*971+839_*971+840insAAAAAAAAAAAAAA	ENSP00000508173.1:n.*971+839_*971+840insAAAAAAAAAAAAAA
ENST00000683003.1:c.*483+839_*483+840insAAAAAAAAAAAAAA	ENSP00000507576.1:n.*483+839_*483+840insAAAAAAAAAAAAAA
ENST00000683133.1:c.1330+477_1330+478insAAAAAAAAAAAAAA	ENSP00000508108.1:n.1330+477_1330+478insAAAAAAAAAAAAAA
ENST00000683243.1:c.*483+839_*483+840insAAAAAAAAAAAAAA	ENSP00000507042.1:n.*483+839_*483+840insAAAAAAAAAAAAAA
ENST00000683463.1:c.1074-499_1074-498insAAAAAAAAAAAAAA	ENSP00000507986.1:n.1074-499_1074-498insAAAAAAAAAAAAAA
ENST00000683548.1:n.1104+839_1104+840insAAAAAAAAAAAAAA
ENST00000683579.1:c.*1044+477_*1044+478insAAAAAAAAAAAAAA	ENSP00000506867.1:n.*1044+477_*1044+478insAAAAAAAAAAAAAA
ENST00000683587.1:n.1177+477_1177+478insAAAAAAAAAAAAAA
ENST00000683681.1:c.1146+477_1146+478insAAAAAAAAAAAAAA	ENSP00000508110.1:n.1146+477_1146+478insAAAAAAAAAAAAAA
ENST00000683735.1:c.*1044+477_*1044+478insAAAAAAAAAAAAAA	ENSP00000508336.1:n.*1044+477_*1044+478insAAAAAAAAAAAAAA
ENST00000683742.1:n.1454_1455insAAAAAAAAAAAAAA
ENST00000683853.1:c.1074-499_1074-498insAAAAAAAAAAAAAA	ENSP00000506834.1:n.1074-499_1074-498insAAAAAAAAAAAAAA
ENST00000683860.1:c.1146+477_1146+478insAAAAAAAAAAAAAA	ENSP00000507179.1:n.1146+477_1146+478insAAAAAAAAAAAAAA
ENST00000683884.1:c.1146+477_1146+478insAAAAAAAAAAAAAA	ENSP00000507004.1:n.1146+477_1146+478insAAAAAAAAAAAAAA
ENST00000684041.1:c.1146+477_1146+478insAAAAAAAAAAAAAA	ENSP00000508382.1:n.1146+477_1146+478insAAAAAAAAAAAAAA
ENST00000684125.1:c.1073+839_1073+840insAAAAAAAAAAAAAA	ENSP00000507320.1:n.1073+839_1073+840insAAAAAAAAAAAAAA
ENST00000684203.1:n.2912-499_2912-498insAAAAAAAAAAAAAA
ENST00000684231.1:c.*556+477_*556+478insAAAAAAAAAAAAAA	ENSP00000507748.1:n.*556+477_*556+478insAAAAAAAAAAAAAA
ENST00000684263.1:c.*86+477_*86+478insAAAAAAAAAAAAAA	ENSP00000508369.1:n.*86+477_*86+478insAAAAAAAAAAAAAA
ENST00000684305.1:c.1594+477_1594+478insAAAAAAAAAAAAAA	ENSP00000506819.1:n.1594+477_1594+478insAAAAAAAAAAAAAA
ENST00000684415.1:c.*14-499_*14-498insAAAAAAAAAAAAAA	ENSP00000507227.1:n.*14-499_*14-498insAAAAAAAAAAAAAA
ENST00000684520.1:c.1146+477_1146+478insAAAAAAAAAAAAAA	ENSP00000506826.1:n.1146+477_1146+478insAAAAAAAAAAAAAA
ENST00000684602.1:c.*812+477_*812+478insAAAAAAAAAAAAAA	ENSP00000507996.1:n.*812+477_*812+478insAAAAAAAAAAAAAA
ENST00000684667.1:c.1477+477_1477+478insAAAAAAAAAAAAAA	ENSP00000507003.1:n.1477+477_1477+478insAAAAAAAAAAAAAA
ENST00000268097.10:c.1146+477_1146+478insAAAAAAAAAAAAAA MANE Select	ENSP00000268097.6:n.1146+477_1146+478insAAAAAAAAAAAAAA
ENST00000268097.9:c.1146+477_1146+478insAAAAAAAAAAAAAA	ENSP00000268097.5:n.1146+477_1146+478insAAAAAAAAAAAAAA
ENST00000379915.4:c.413-884_413-883insAAAAAAAAAAAAAA	ENSP00000478716.1:n.413-884_413-883insAAAAAAAAAAAAAA
ENST00000563762.5:c.825+839_825+840insAAAAAAAAAAAAAA	ENSP00000456346.1:n.825+839_825+840insAAAAAAAAAAAAAA
ENST00000566304.5:c.1179+477_1179+478insAAAAAAAAAAAAAA	ENSP00000455114.1:n.1179+477_1179+478insAAAAAAAAAAAAAA
ENST00000566672.5:c.*556+477_*556+478insAAAAAAAAAAAAAA	ENSP00000457037.1:n.*556+477_*556+478insAAAAAAAAAAAAAA
ENST00000567027.5:c.945+839_945+840insAAAAAAAAAAAAAA
ENST00000567159.5:c.1146+477_1146+478insAAAAAAAAAAAAAA	ENSP00000456489.1:n.1146+477_1146+478insAAAAAAAAAAAAAA
ENST00000567411.5:c.*667+477_*667+478insAAAAAAAAAAAAAA	ENSP00000455545.1:n.*667+477_*667+478insAAAAAAAAAAAAAA
ENST00000568777.5:n.6550+477_6550+478insAAAAAAAAAAAAAA
ENST00000569410.5:c.1074-499_1074-498insAAAAAAAAAAAAAA	ENSP00000457125.1:n.1074-499_1074-498insAAAAAAAAAAAAAA
NM_000520.4:c.1146+477_1146+478insAAAAAAAAAAAAAA	NP_000511.2:n.1146+477_1146+478insAAAAAAAAAAAAAA
NM_000520.5:c.1146+477_1146+478insAAAAAAAAAAAAAA	NP_000511.2:n.1146+477_1146+478insAAAAAAAAAAAAAA
NM_001318825.1:c.1179+477_1179+478insAAAAAAAAAAAAAA	NP_001305754.1:n.1179+477_1179+478insAAAAAAAAAAAAAA
NR_134869.1:n.1574+839_1574+840insAAAAAAAAAAAAAA
NM_000520.6:c.1146+477_1146+478insAAAAAAAAAAAAAA MANE Select	NP_000511.2:n.1146+477_1146+478insAAAAAAAAAAAAAA
NM_001318825.2:c.1179+477_1179+478insAAAAAAAAAAAAAA	NP_001305754.1:n.1179+477_1179+478insAAAAAAAAAAAAAA
NR_134869.2:n.1115+839_1115+840insAAAAAAAAAAAAAA
NR_134869.3:n.1115+839_1115+840insAAAAAAAAAAAAAA