Canonical Allele Identifier: CA2186743294

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1459589
• ClinVar RCV Id: RCV001959076
• dbSNP Id: rs2088601317

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345540del , CM000677.2:g.72345540del	GRCh38
NC_000015.9:g.72637881del , CM000677.1:g.72637881del	GRCh37
NC_000015.8:g.70424935del	NCBI36
NG_009017.1:g.35643del
NG_009017.2:g.35643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*95del	ENSP00000457521.2:n.*95del
ENST00000682061.1:c.*1781del	ENSP00000508316.1:n.*1781del
ENST00000682064.1:n.1662del
ENST00000682177.1:c.1478del	ENSP00000507409.1:n.1478del
ENST00000682235.1:n.1458del
ENST00000682461.1:c.1541del	ENSP00000507308.1:n.1541del
ENST00000682653.1:n.2439del
ENST00000682657.1:c.*1272del	ENSP00000507753.1:n.*1272del
ENST00000682721.1:c.*1238del	ENSP00000507535.1:n.*1238del
ENST00000682843.1:c.*1076del	ENSP00000508173.1:n.*1076del
ENST00000683003.1:c.*1272del	ENSP00000507576.1:n.*1272del
ENST00000683133.1:c.1619del	ENSP00000508108.1:n.1619del
ENST00000683243.1:c.*588del	ENSP00000507042.1:n.*588del
ENST00000683463.1:c.*924del	ENSP00000507986.1:n.*924del
ENST00000683548.1:n.1893del
ENST00000683579.1:c.*1333del	ENSP00000506867.1:n.*1333del
ENST00000683587.1:n.1966del
ENST00000683681.1:c.*113del	ENSP00000508110.1:n.*113del
ENST00000683735.1:c.*1833del	ENSP00000508336.1:n.*1833del
ENST00000683853.1:c.*240del	ENSP00000506834.1:n.*240del
ENST00000683860.1:c.*555del	ENSP00000507179.1:n.*555del
ENST00000683884.1:c.*762del	ENSP00000507004.1:n.*762del
ENST00000684041.1:c.*568del	ENSP00000508382.1:n.*568del
ENST00000684125.1:c.*95del	ENSP00000507320.1:n.*95del
ENST00000684203.1:n.3884del
ENST00000684231.1:c.*845del	ENSP00000507748.1:n.*845del
ENST00000684263.1:c.*1059del	ENSP00000508369.1:n.*1059del
ENST00000684305.1:c.1883del	ENSP00000506819.1:n.1883del
ENST00000684415.1:c.*986del	ENSP00000507227.1:n.*986del
ENST00000684520.1:c.*694del	ENSP00000506826.1:n.*694del
ENST00000684602.1:c.*1101del	ENSP00000507996.1:n.*1101del
ENST00000684667.1:c.1766del	ENSP00000507003.1:n.1766del
ENST00000268097.10:c.1435del MANE Select	ENSP00000268097.6:p.Ala479LeufsTer11
ENST00000268097.9:c.1435del	ENSP00000268097.5:p.Ala479LeufsTer11
ENST00000379915.4:c.517del	ENSP00000478716.1:p.Ala173LeufsTer11
ENST00000564677.5:n.227del
ENST00000565873.1:n.346del
ENST00000566304.5:c.1468del	ENSP00000455114.1:p.Ala490LeufsTer11
ENST00000567027.5:c.1050del
ENST00000567159.5:c.1435del	ENSP00000456489.1:p.Ala479LeufsTer11
ENST00000567411.5:c.*956del	ENSP00000455545.1:n.*956del
ENST00000568777.5:n.6655del
ENST00000569116.1:n.142del
NM_000520.4:c.1435del	NP_000511.2:p.Ala479LeufsTer11
NM_000520.5:c.1435del	NP_000511.2:p.Ala479LeufsTer11
NM_001318825.1:c.1468del	NP_001305754.1:p.Ala490LeufsTer11
NR_134869.1:n.1679del
NM_000520.6:c.1435del MANE Select	NP_000511.2:p.Ala479LeufsTer11
NM_001318825.2:c.1468del	NP_001305754.1:p.Ala490LeufsTer11
NR_134869.2:n.1220del
NR_134869.3:n.1220del