Canonical Allele Identifier: CA252908

Gene: HEXA

Linked Data

• ClinVar Variation Id: 3894
• ClinVar RCV Id: RCV000004098
• dbSNP Id: rs797044433
• gnomAD v4: 15-72345461-CG-C
• MyVariant Identifiers: chr15:g.72637803del (hg19) ; chr15:g.72345462del (hg38)
• PubMed: PMID:2531748 ; PMID:2954459

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345463del , CM000677.2:g.72345463del	GRCh38
NC_000015.9:g.72637804del , CM000677.1:g.72637804del	GRCh37
NC_000015.8:g.70424858del	NCBI36
NG_009017.1:g.35718del
NG_009017.2:g.35718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*170del	ENSP00000457521.2:n.*170del
ENST00000682061.1:c.*1856del	ENSP00000508316.1:n.*1856del
ENST00000682064.1:n.1737del
ENST00000682177.1:c.1553del	ENSP00000507409.1:n.1553del
ENST00000682235.1:n.1533del
ENST00000682461.1:c.1616del	ENSP00000507308.1:n.1616del
ENST00000682653.1:n.2514del
ENST00000682657.1:c.*1347del	ENSP00000507753.1:n.*1347del
ENST00000682721.1:c.*1313del	ENSP00000507535.1:n.*1313del
ENST00000682843.1:c.*1151del	ENSP00000508173.1:n.*1151del
ENST00000683003.1:c.*1347del	ENSP00000507576.1:n.*1347del
ENST00000683133.1:c.1694del	ENSP00000508108.1:n.1694del
ENST00000683243.1:c.*663del	ENSP00000507042.1:n.*663del
ENST00000683463.1:c.*999del	ENSP00000507986.1:n.*999del
ENST00000683548.1:n.1968del
ENST00000683579.1:c.*1408del	ENSP00000506867.1:n.*1408del
ENST00000683587.1:n.2041del
ENST00000683681.1:c.*188del	ENSP00000508110.1:n.*188del
ENST00000683735.1:c.*1908del	ENSP00000508336.1:n.*1908del
ENST00000683853.1:c.*315del	ENSP00000506834.1:n.*315del
ENST00000683860.1:c.*630del	ENSP00000507179.1:n.*630del
ENST00000683884.1:c.*837del	ENSP00000507004.1:n.*837del
ENST00000684125.1:c.*170del	ENSP00000507320.1:n.*170del
ENST00000684203.1:n.3959del
ENST00000684231.1:c.*920del	ENSP00000507748.1:n.*920del
ENST00000684263.1:c.*1134del	ENSP00000508369.1:n.*1134del
ENST00000684305.1:c.1958del	ENSP00000506819.1:n.1958del
ENST00000684415.1:c.*1061del	ENSP00000507227.1:n.*1061del
ENST00000684520.1:c.*769del	ENSP00000506826.1:n.*769del
ENST00000684602.1:c.*1176del	ENSP00000507996.1:n.*1176del
ENST00000684667.1:c.1841del	ENSP00000507003.1:n.1841del
ENST00000268097.10:c.1510del MANE Select	ENSP00000268097.6:p.Arg504AlafsTer5
ENST00000268097.9:c.1510del	ENSP00000268097.5:p.Arg504AlafsTer5
ENST00000379915.4:c.592del	ENSP00000478716.1:p.Arg198AlafsTer5
ENST00000564677.5:n.302del
ENST00000565873.1:n.421del
ENST00000566304.5:c.1543del	ENSP00000455114.1:p.Arg515AlafsTer5
ENST00000567027.5:c.1125del
ENST00000567159.5:c.1510del	ENSP00000456489.1:p.Arg504AlafsTer5
ENST00000567411.5:c.*1031del	ENSP00000455545.1:n.*1031del
ENST00000568777.5:n.6730del
ENST00000569116.1:n.217del
NM_000520.4:c.1510del	NP_000511.2:p.Arg504AlafsTer5
NM_000520.5:c.1510del	NP_000511.2:p.Arg504AlafsTer5
NM_001318825.1:c.1543del	NP_001305754.1:p.Arg515AlafsTer5
NR_134869.1:n.1754del
NM_000520.6:c.1510del MANE Select	NP_000511.2:p.Arg504AlafsTer5
NM_001318825.2:c.1543del	NP_001305754.1:p.Arg515AlafsTer5
NR_134869.2:n.1295del
NR_134869.3:n.1295del