Canonical Allele Identifier: CA2697549196

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2748168
• ClinVar RCV Id: RCV003502397

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346318del , CM000677.2:g.72346318del	GRCh38
NC_000015.9:g.72638659del , CM000677.1:g.72638659del	GRCh37
NC_000015.8:g.70425713del	NCBI36
NG_009017.1:g.34862del
NG_009017.2:g.34862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1081del	ENSP00000457521.2:p.Ter361GluextTer?
ENST00000682061.1:c.*1000del	ENSP00000508316.1:n.*1000del
ENST00000682064.1:n.881del
ENST00000682177.1:c.1381del	ENSP00000507409.1:n.1381del
ENST00000682235.1:n.677del
ENST00000682461.1:c.1444del	ENSP00000507308.1:n.1444del
ENST00000682653.1:n.1658del
ENST00000682657.1:c.*491del	ENSP00000507753.1:n.*491del
ENST00000682721.1:c.*1141del	ENSP00000507535.1:n.*1141del
ENST00000682843.1:c.*979del	ENSP00000508173.1:n.*979del
ENST00000683003.1:c.*491del	ENSP00000507576.1:n.*491del
ENST00000683133.1:c.1522del	ENSP00000508108.1:n.1522del
ENST00000683243.1:c.*491del	ENSP00000507042.1:n.*491del
ENST00000683463.1:c.*143del	ENSP00000507986.1:n.*143del
ENST00000683548.1:n.1112del
ENST00000683579.1:c.*1236del	ENSP00000506867.1:n.*1236del
ENST00000683587.1:n.1185del
ENST00000683681.1:c.1338del	ENSP00000508110.1:p.Glu447SerfsTer6
ENST00000683735.1:c.*1052del	ENSP00000508336.1:n.*1052del
ENST00000683853.1:c.*143del	ENSP00000506834.1:n.*143del
ENST00000683860.1:c.1338del	ENSP00000507179.1:p.Glu447SerfsTer6
ENST00000683884.1:c.1154del	ENSP00000507004.1:p.Leu385ArgfsTer?
ENST00000684041.1:c.1338del	ENSP00000508382.1:p.Glu447SerfsTer6
ENST00000684125.1:c.1081del	ENSP00000507320.1:p.Ter361GluextTer?
ENST00000684203.1:n.3103del
ENST00000684231.1:c.*748del	ENSP00000507748.1:n.*748del
ENST00000684263.1:c.*278del	ENSP00000508369.1:n.*278del
ENST00000684305.1:c.1786del	ENSP00000506819.1:n.1786del
ENST00000684415.1:c.*205del	ENSP00000507227.1:n.*205del
ENST00000684520.1:c.1338del	ENSP00000506826.1:p.Glu447SerfsTer6
ENST00000684602.1:c.*1004del	ENSP00000507996.1:n.*1004del
ENST00000684667.1:c.1669del	ENSP00000507003.1:n.1669del
ENST00000268097.10:c.1338del MANE Select	ENSP00000268097.6:p.Glu447SerfsTer6
ENST00000268097.9:c.1338del	ENSP00000268097.5:p.Glu447SerfsTer6
ENST00000379915.4:c.420del	ENSP00000478716.1:p.Glu141SerfsTer6
ENST00000563762.5:c.833del	ENSP00000456346.1:n.833del
ENST00000566304.5:c.1371del	ENSP00000455114.1:p.Glu458SerfsTer6
ENST00000566672.5:c.*748del	ENSP00000457037.1:n.*748del
ENST00000567027.5:c.953del
ENST00000567159.5:c.1338del	ENSP00000456489.1:p.Glu447SerfsTer6
ENST00000567411.5:c.*859del	ENSP00000455545.1:n.*859del
ENST00000568777.5:n.6558del
ENST00000569410.5:c.*143del	ENSP00000457125.1:n.*143del
NM_000520.4:c.1338del	NP_000511.2:p.Glu447SerfsTer6
NM_000520.5:c.1338del	NP_000511.2:p.Glu447SerfsTer6
NM_001318825.1:c.1371del	NP_001305754.1:p.Glu458SerfsTer6
NR_134869.1:n.1582del
NM_000520.6:c.1338del MANE Select	NP_000511.2:p.Glu447SerfsTer6
NM_001318825.2:c.1371del	NP_001305754.1:p.Glu458SerfsTer6
NR_134869.2:n.1123del
NR_134869.3:n.1123del