Canonical Allele Identifier: CA491130300

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72646026_72646029delACTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353688_72353691del , CM000677.2:g.72353688_72353691del	GRCh38
NC_000015.9:g.72646029_72646032del , CM000677.1:g.72646029_72646032del	GRCh37
NC_000015.8:g.70433083_70433086del	NCBI36
NG_009017.1:g.27492_27495del
NG_009017.2:g.27492_27495del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2296_2299del
ENST00000567027.6:c.459+3_459+6del
ENST00000568260.2:c.480-510_480-507del	ENSP00000458128.2:n.480-510_480-507del
ENST00000682061.1:c.*121+3_*121+6del
ENST00000682177.1:c.459+3_459+6del
ENST00000682461.1:c.676+1871_676+1874del	ENSP00000507308.1:n.676+1871_676+1874del
ENST00000682653.1:n.490+3_490+6del
ENST00000682657.1:c.254-2454_254-2451del	ENSP00000507753.1:n.254-2454_254-2451del
ENST00000682721.1:c.*262+3_*262+6del
ENST00000682843.1:c.*357+3_*357+6del
ENST00000683003.1:c.412+1871_412+1874del	ENSP00000507576.1:n.412+1871_412+1874del
ENST00000683133.1:c.643+3_643+6del
ENST00000683228.1:n.490+3_490+6del
ENST00000683243.1:c.412+1871_412+1874del	ENSP00000507042.1:n.412+1871_412+1874del
ENST00000683463.1:c.459+3_459+6del
ENST00000683548.1:n.490+3_490+6del
ENST00000683579.1:c.*357+3_*357+6del
ENST00000683587.1:n.490+3_490+6del
ENST00000683681.1:c.459+3_459+6del
ENST00000683735.1:c.*357+3_*357+6del
ENST00000683853.1:c.459+3_459+6del
ENST00000683860.1:c.459+3_459+6del
ENST00000683884.1:c.459+3_459+6del
ENST00000684041.1:c.459+3_459+6del
ENST00000684125.1:c.459+3_459+6del
ENST00000684203.1:n.2297+3_2297+6del
ENST00000684231.1:c.412+1871_412+1874del	ENSP00000507748.1:n.412+1871_412+1874del
ENST00000684263.1:c.459+3_459+6del
ENST00000684305.1:c.907+3_907+6del
ENST00000684415.1:c.459+3_459+6del
ENST00000684520.1:c.459+3_459+6del
ENST00000684602.1:c.*236+1871_*236+1874del	ENSP00000507996.1:n.*236+1871_*236+1874de...
ENST00000684667.1:c.790+3_790+6del
ENST00000268097.10:c.459+3_459+6del
ENST00000268097.9:c.459+3_459+6del
ENST00000379915.4:c.412+1871_412+1874del	ENSP00000478716.1:n.412+1871_412+1874del
ENST00000563762.5:c.503+1871_503+1874del	ENSP00000456346.1:n.503+1871_503+1874del
ENST00000566304.5:c.492+3_492+6del
ENST00000566672.5:c.412+1871_412+1874del	ENSP00000457037.1:n.412+1871_412+1874del
ENST00000567027.5:c.331+3_331+6del
ENST00000567159.5:c.459+3_459+6del
ENST00000567411.5:c.413-510_413-507del	ENSP00000455545.1:n.413-510_413-507del
ENST00000568260.1:c.461-510_461-507del
ENST00000568777.5:n.5863+3_5863+6del
ENST00000569410.5:c.459+3_459+6del
ENST00000569509.5:n.417+1871_417+1874del
NM_000520.4:c.459+3_459+6del
NM_000520.5:c.459+3_459+6del
NM_001318825.1:c.492+3_492+6del
NR_134869.1:n.960+3_960+6del
NM_000520.6:c.459+3_459+6del
NM_001318825.2:c.492+3_492+6del
NR_134869.2:n.501+3_501+6del
NR_134869.3:n.501+3_501+6del