Canonical Allele Identifier: CA7644910

Gene: HEXA

Linked Data

• dbSNP Id: rs747291156
• ExAC: 15:72642944 CT / C
• gnomAD v2: 15-72642944-CT-C
• gnomAD v4: 15-72350603-CT-C
• MyVariant Identifiers: chr15:g.72642945del (hg19) ; chr15:g.72350604del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350605del , CM000677.2:g.72350605del	GRCh38
NC_000015.9:g.72642946del , CM000677.1:g.72642946del	GRCh37
NC_000015.8:g.70430000del	NCBI36
NG_009017.1:g.30576del
NG_009017.2:g.30576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3065del
ENST00000567027.6:c.719del	ENSP00000457521.2:p.Lys240ArgfsTer?
ENST00000682061.1:c.*381del	ENSP00000508316.1:n.*381del
ENST00000682177.1:c.762del	ENSP00000507409.1:p.Gly255GlufsTer?
ENST00000682461.1:c.825del	ENSP00000507308.1:n.825del
ENST00000682653.1:n.750del
ENST00000682657.1:c.*129del	ENSP00000507753.1:n.*129del
ENST00000682721.1:c.*522del	ENSP00000507535.1:n.*522del
ENST00000682843.1:c.*617del	ENSP00000508173.1:n.*617del
ENST00000683003.1:c.*129del	ENSP00000507576.1:n.*129del
ENST00000683133.1:c.903del	ENSP00000508108.1:n.903del
ENST00000683228.1:n.750del
ENST00000683243.1:c.*129del	ENSP00000507042.1:n.*129del
ENST00000683463.1:c.719del	ENSP00000507986.1:p.Lys240ArgfsTer?
ENST00000683548.1:n.750del
ENST00000683579.1:c.*617del	ENSP00000506867.1:n.*617del
ENST00000683587.1:n.750del
ENST00000683681.1:c.719del	ENSP00000508110.1:p.Lys240ArgfsTer?
ENST00000683735.1:c.*617del	ENSP00000508336.1:n.*617del
ENST00000683742.1:n.550del
ENST00000683853.1:c.719del	ENSP00000506834.1:p.Lys240ArgfsTer?
ENST00000683860.1:c.719del	ENSP00000507179.1:p.Lys240ArgfsTer?
ENST00000683884.1:c.719del	ENSP00000507004.1:p.Lys240ArgfsTer?
ENST00000684041.1:c.719del	ENSP00000508382.1:p.Lys240ArgfsTer?
ENST00000684125.1:c.719del	ENSP00000507320.1:p.Lys240ArgfsTer?
ENST00000684203.1:n.2557del
ENST00000684231.1:c.*129del	ENSP00000507748.1:n.*129del
ENST00000684263.1:c.719del	ENSP00000508369.1:p.Lys240ArgfsTer?
ENST00000684305.1:c.1167del	ENSP00000506819.1:n.1167del
ENST00000684415.1:c.719del	ENSP00000507227.1:p.Lys240ArgfsTer?
ENST00000684520.1:c.719del	ENSP00000506826.1:p.Lys240ArgfsTer?
ENST00000684602.1:c.*385del	ENSP00000507996.1:n.*385del
ENST00000684667.1:c.1050del	ENSP00000507003.1:n.1050del
ENST00000268097.10:c.719del MANE Select	ENSP00000268097.6:p.Lys240ArgfsTer?
ENST00000268097.9:c.719del	ENSP00000268097.5:p.Lys240ArgfsTer?
ENST00000379915.4:c.413-4279del	ENSP00000478716.1:n.413-4279del
ENST00000563762.5:c.652del	ENSP00000456346.1:n.652del
ENST00000566304.5:c.752del	ENSP00000455114.1:p.Lys251ArgfsTer?
ENST00000566672.5:c.*129del	ENSP00000457037.1:n.*129del
ENST00000567027.5:c.591del
ENST00000567159.5:c.719del	ENSP00000456489.1:p.Lys240ArgfsTer?
ENST00000567411.5:c.*240del	ENSP00000455545.1:n.*240del
ENST00000568777.5:n.6123del
ENST00000569410.5:c.719del	ENSP00000457125.1:p.Lys240ArgfsTer?
ENST00000569509.5:n.566del
NM_000520.4:c.719del	NP_000511.2:p.Lys240ArgfsTer?
NM_000520.5:c.719del	NP_000511.2:p.Lys240ArgfsTer?
NM_001318825.1:c.752del	NP_001305754.1:p.Lys251ArgfsTer?
NR_134869.1:n.1220del
NM_000520.6:c.719del MANE Select	NP_000511.2:p.Lys240ArgfsTer?
NM_001318825.2:c.752del	NP_001305754.1:p.Lys251ArgfsTer?
NR_134869.2:n.761del
NR_134869.3:n.761del