Canonical Allele Identifier: CA715469158

Gene: HEXA

Linked Data

• dbSNP Id: rs1472244846
• gnomAD v3: 15-72353607-A-AT
• gnomAD v4: 15-72353607-A-AT
• MyVariant Identifiers: chr15:g.72645948_72645949insT (hg19) ; chr15:g.72353607_72353608insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353607_72353608insT , CM000677.2:g.72353607_72353608insT	GRCh38
NC_000015.9:g.72645948_72645949insT , CM000677.1:g.72645948_72645949insT	GRCh37
NC_000015.8:g.70433002_70433003insT	NCBI36
NG_009017.1:g.27572_27573insA
NG_009017.2:g.27572_27573insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2376_2377insA
ENST00000567027.6:c.459+83_459+84insA	ENSP00000457521.2:n.459+83_459+84insA
ENST00000568260.2:c.480-430_480-429insA	ENSP00000458128.2:n.480-430_480-429insA
ENST00000682061.1:c.*121+83_*121+84insA	ENSP00000508316.1:n.*121+83_*121+84insA
ENST00000682177.1:c.459+83_459+84insA	ENSP00000507409.1:n.459+83_459+84insA
ENST00000682461.1:c.676+1951_676+1952insA	ENSP00000507308.1:n.676+1951_676+1952insA...
ENST00000682653.1:n.490+83_490+84insA
ENST00000682657.1:c.254-2374_254-2373insA	ENSP00000507753.1:n.254-2374_254-2373insA...
ENST00000682721.1:c.*262+83_*262+84insA	ENSP00000507535.1:n.*262+83_*262+84insA
ENST00000682843.1:c.*357+83_*357+84insA	ENSP00000508173.1:n.*357+83_*357+84insA
ENST00000683003.1:c.412+1951_412+1952insA	ENSP00000507576.1:n.412+1951_412+1952insA...
ENST00000683133.1:c.643+83_643+84insA	ENSP00000508108.1:n.643+83_643+84insA
ENST00000683228.1:n.490+83_490+84insA
ENST00000683243.1:c.412+1951_412+1952insA	ENSP00000507042.1:n.412+1951_412+1952insA...
ENST00000683463.1:c.459+83_459+84insA	ENSP00000507986.1:n.459+83_459+84insA
ENST00000683548.1:n.490+83_490+84insA
ENST00000683579.1:c.*357+83_*357+84insA	ENSP00000506867.1:n.*357+83_*357+84insA
ENST00000683587.1:n.490+83_490+84insA
ENST00000683681.1:c.459+83_459+84insA	ENSP00000508110.1:n.459+83_459+84insA
ENST00000683735.1:c.*357+83_*357+84insA	ENSP00000508336.1:n.*357+83_*357+84insA
ENST00000683853.1:c.459+83_459+84insA	ENSP00000506834.1:n.459+83_459+84insA
ENST00000683860.1:c.459+83_459+84insA	ENSP00000507179.1:n.459+83_459+84insA
ENST00000683884.1:c.459+83_459+84insA	ENSP00000507004.1:n.459+83_459+84insA
ENST00000684041.1:c.459+83_459+84insA	ENSP00000508382.1:n.459+83_459+84insA
ENST00000684125.1:c.459+83_459+84insA	ENSP00000507320.1:n.459+83_459+84insA
ENST00000684203.1:n.2297+83_2297+84insA
ENST00000684231.1:c.412+1951_412+1952insA	ENSP00000507748.1:n.412+1951_412+1952insA...
ENST00000684263.1:c.459+83_459+84insA	ENSP00000508369.1:n.459+83_459+84insA
ENST00000684305.1:c.907+83_907+84insA	ENSP00000506819.1:n.907+83_907+84insA
ENST00000684415.1:c.459+83_459+84insA	ENSP00000507227.1:n.459+83_459+84insA
ENST00000684520.1:c.459+83_459+84insA	ENSP00000506826.1:n.459+83_459+84insA
ENST00000684602.1:c.*236+1951_*236+1952insA	ENSP00000507996.1:n.*236+1951_*236+1952in...
ENST00000684667.1:c.790+83_790+84insA	ENSP00000507003.1:n.790+83_790+84insA
ENST00000268097.10:c.459+83_459+84insA MANE Select	ENSP00000268097.6:n.459+83_459+84insA
ENST00000268097.9:c.459+83_459+84insA	ENSP00000268097.5:n.459+83_459+84insA
ENST00000379915.4:c.412+1951_412+1952insA	ENSP00000478716.1:n.412+1951_412+1952insA...
ENST00000563762.5:c.503+1951_503+1952insA	ENSP00000456346.1:n.503+1951_503+1952insA...
ENST00000566304.5:c.492+83_492+84insA	ENSP00000455114.1:n.492+83_492+84insA
ENST00000566672.5:c.412+1951_412+1952insA	ENSP00000457037.1:n.412+1951_412+1952insA...
ENST00000567027.5:c.331+83_331+84insA
ENST00000567159.5:c.459+83_459+84insA	ENSP00000456489.1:n.459+83_459+84insA
ENST00000567411.5:c.413-430_413-429insA	ENSP00000455545.1:n.413-430_413-429insA
ENST00000568260.1:c.461-430_461-429insA
ENST00000568777.5:n.5863+83_5863+84insA
ENST00000569410.5:c.459+83_459+84insA	ENSP00000457125.1:n.459+83_459+84insA
ENST00000569509.5:n.417+1951_417+1952insA
NM_000520.4:c.459+83_459+84insA	NP_000511.2:n.459+83_459+84insA
NM_000520.5:c.459+83_459+84insA	NP_000511.2:n.459+83_459+84insA
NM_001318825.1:c.492+83_492+84insA	NP_001305754.1:n.492+83_492+84insA
NR_134869.1:n.960+83_960+84insA
NM_000520.6:c.459+83_459+84insA MANE Select	NP_000511.2:n.459+83_459+84insA
NM_001318825.2:c.492+83_492+84insA	NP_001305754.1:n.492+83_492+84insA
NR_134869.2:n.501+83_501+84insA
NR_134869.3:n.501+83_501+84insA