Canonical Allele Identifier: CA2731031957

Gene: HEXA

Linked Data

• dbSNP Id: rs2140321424

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347290_72347291insTAATT , CM000677.2:g.72347290_72347291insTAATT	GRCh38
NC_000015.9:g.72639631_72639632insTAATT , CM000677.1:g.72639631_72639632insTAATT	GRCh37
NC_000015.8:g.70426685_70426686insTAATT	NCBI36
NG_009017.1:g.33891_33892insTTAAA
NG_009017.2:g.33891_33892insTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+759_1073+760insTTAAA	ENSP00000457521.2:n.1073+759_1073+760insTTAAA
ENST00000682061.1:c.*808+397_*808+398insTTAAA	ENSP00000508316.1:n.*808+397_*808+398insTTAAA
ENST00000682177.1:c.1189+397_1189+398insTTAAA	ENSP00000507409.1:n.1189+397_1189+398insTTAAA
ENST00000682461.1:c.1252+397_1252+398insTTAAA	ENSP00000507308.1:n.1252+397_1252+398insTTAAA
ENST00000682653.1:n.1466+397_1466+398insTTAAA
ENST00000682657.1:c.*483+759_*483+760insTTAAA	ENSP00000507753.1:n.*483+759_*483+760insTTAAA
ENST00000682721.1:c.*949+397_*949+398insTTAAA	ENSP00000507535.1:n.*949+397_*949+398insTTAAA
ENST00000682843.1:c.*971+759_*971+760insTTAAA	ENSP00000508173.1:n.*971+759_*971+760insTTAAA
ENST00000683003.1:c.*483+759_*483+760insTTAAA	ENSP00000507576.1:n.*483+759_*483+760insTTAAA
ENST00000683133.1:c.1330+397_1330+398insTTAAA	ENSP00000508108.1:n.1330+397_1330+398insTTAAA
ENST00000683228.1:n.1574_1575insTTAAA
ENST00000683243.1:c.*483+759_*483+760insTTAAA	ENSP00000507042.1:n.*483+759_*483+760insTTAAA
ENST00000683463.1:c.1074-579_1074-578insTTAAA	ENSP00000507986.1:n.1074-579_1074-578insTTAAA
ENST00000683548.1:n.1104+759_1104+760insTTAAA
ENST00000683579.1:c.*1044+397_*1044+398insTTAAA	ENSP00000506867.1:n.*1044+397_*1044+398insTTAAA
ENST00000683587.1:n.1177+397_1177+398insTTAAA
ENST00000683681.1:c.1146+397_1146+398insTTAAA	ENSP00000508110.1:n.1146+397_1146+398insTTAAA
ENST00000683735.1:c.*1044+397_*1044+398insTTAAA	ENSP00000508336.1:n.*1044+397_*1044+398insTTAAA
ENST00000683742.1:n.1374_1375insTTAAA
ENST00000683853.1:c.1074-579_1074-578insTTAAA	ENSP00000506834.1:n.1074-579_1074-578insTTAAA
ENST00000683860.1:c.1146+397_1146+398insTTAAA	ENSP00000507179.1:n.1146+397_1146+398insTTAAA
ENST00000683884.1:c.1146+397_1146+398insTTAAA	ENSP00000507004.1:n.1146+397_1146+398insTTAAA
ENST00000684041.1:c.1146+397_1146+398insTTAAA	ENSP00000508382.1:n.1146+397_1146+398insTTAAA
ENST00000684125.1:c.1073+759_1073+760insTTAAA	ENSP00000507320.1:n.1073+759_1073+760insTTAAA
ENST00000684203.1:n.2912-579_2912-578insTTAAA
ENST00000684231.1:c.*556+397_*556+398insTTAAA	ENSP00000507748.1:n.*556+397_*556+398insTTAAA
ENST00000684263.1:c.*86+397_*86+398insTTAAA	ENSP00000508369.1:n.*86+397_*86+398insTTAAA
ENST00000684305.1:c.1594+397_1594+398insTTAAA	ENSP00000506819.1:n.1594+397_1594+398insTTAAA
ENST00000684415.1:c.*14-579_*14-578insTTAAA	ENSP00000507227.1:n.*14-579_*14-578insTTAAA
ENST00000684520.1:c.1146+397_1146+398insTTAAA	ENSP00000506826.1:n.1146+397_1146+398insTTAAA
ENST00000684602.1:c.*812+397_*812+398insTTAAA	ENSP00000507996.1:n.*812+397_*812+398insTTAAA
ENST00000684667.1:c.1477+397_1477+398insTTAAA	ENSP00000507003.1:n.1477+397_1477+398insTTAAA
ENST00000268097.10:c.1146+397_1146+398insTTAAA MANE Select	ENSP00000268097.6:n.1146+397_1146+398insTTAAA
ENST00000268097.9:c.1146+397_1146+398insTTAAA	ENSP00000268097.5:n.1146+397_1146+398insTTAAA
ENST00000379915.4:c.413-964_413-963insTTAAA	ENSP00000478716.1:n.413-964_413-963insTTAAA
ENST00000563762.5:c.825+759_825+760insTTAAA	ENSP00000456346.1:n.825+759_825+760insTTAAA
ENST00000566304.5:c.1179+397_1179+398insTTAAA	ENSP00000455114.1:n.1179+397_1179+398insTTAAA
ENST00000566672.5:c.*556+397_*556+398insTTAAA	ENSP00000457037.1:n.*556+397_*556+398insTTAAA
ENST00000567027.5:c.945+759_945+760insTTAAA
ENST00000567159.5:c.1146+397_1146+398insTTAAA	ENSP00000456489.1:n.1146+397_1146+398insTTAAA
ENST00000567411.5:c.*667+397_*667+398insTTAAA	ENSP00000455545.1:n.*667+397_*667+398insTTAAA
ENST00000568777.5:n.6550+397_6550+398insTTAAA
ENST00000569410.5:c.1074-579_1074-578insTTAAA	ENSP00000457125.1:n.1074-579_1074-578insTTAAA
NM_000520.4:c.1146+397_1146+398insTTAAA	NP_000511.2:n.1146+397_1146+398insTTAAA
NM_000520.5:c.1146+397_1146+398insTTAAA	NP_000511.2:n.1146+397_1146+398insTTAAA
NM_001318825.1:c.1179+397_1179+398insTTAAA	NP_001305754.1:n.1179+397_1179+398insTTAAA
NR_134869.1:n.1574+759_1574+760insTTAAA
NM_000520.6:c.1146+397_1146+398insTTAAA MANE Select	NP_000511.2:n.1146+397_1146+398insTTAAA
NM_001318825.2:c.1179+397_1179+398insTTAAA	NP_001305754.1:n.1179+397_1179+398insTTAAA
NR_134869.2:n.1115+759_1115+760insTTAAA
NR_134869.3:n.1115+759_1115+760insTTAAA