Canonical Allele Identifier: CA2629341241

Gene: HEXA

Linked Data

• gnomAD v4: 15-72353172-TAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353175_72353178del , CM000677.2:g.72353175_72353178del	GRCh38
NC_000015.9:g.72645516_72645519del , CM000677.1:g.72645516_72645519del	GRCh37
NC_000015.8:g.70432570_70432573del	NCBI36
NG_009017.1:g.28004_28007del
NG_009017.2:g.28004_28007del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2808_2811del
ENST00000567027.6:c.462_465del	ENSP00000457521.2:p.Phe154LeufsTer?
ENST00000568260.2:c.482_485del	ENSP00000458128.2:n.482_485del
ENST00000682061.1:c.*124_*127del	ENSP00000508316.1:n.*124_*127del
ENST00000682177.1:c.462_465del	ENSP00000507409.1:p.Phe154LeufsTer?
ENST00000682461.1:c.677-1942_677-1939del	ENSP00000507308.1:n.677-1942_677-1939del
ENST00000682653.1:n.493_496del
ENST00000682657.1:c.254-1942_254-1939del	ENSP00000507753.1:n.254-1942_254-1939del
ENST00000682721.1:c.*265_*268del	ENSP00000507535.1:n.*265_*268del
ENST00000682843.1:c.*360_*363del	ENSP00000508173.1:n.*360_*363del
ENST00000683003.1:c.413-1942_413-1939del	ENSP00000507576.1:n.413-1942_413-1939del
ENST00000683133.1:c.646_649del	ENSP00000508108.1:n.646_649del
ENST00000683228.1:n.493_496del
ENST00000683243.1:c.413-1942_413-1939del	ENSP00000507042.1:n.413-1942_413-1939del
ENST00000683463.1:c.462_465del	ENSP00000507986.1:p.Phe154LeufsTer?
ENST00000683548.1:n.493_496del
ENST00000683579.1:c.*360_*363del	ENSP00000506867.1:n.*360_*363del
ENST00000683587.1:n.493_496del
ENST00000683681.1:c.462_465del	ENSP00000508110.1:p.Phe154LeufsTer?
ENST00000683735.1:c.*360_*363del	ENSP00000508336.1:n.*360_*363del
ENST00000683853.1:c.462_465del	ENSP00000506834.1:p.Phe154LeufsTer?
ENST00000683860.1:c.462_465del	ENSP00000507179.1:p.Phe154LeufsTer?
ENST00000683884.1:c.462_465del	ENSP00000507004.1:p.Phe154LeufsTer?
ENST00000684041.1:c.462_465del	ENSP00000508382.1:p.Phe154LeufsTer?
ENST00000684125.1:c.462_465del	ENSP00000507320.1:p.Phe154LeufsTer?
ENST00000684203.1:n.2300_2303del
ENST00000684231.1:c.413-1942_413-1939del	ENSP00000507748.1:n.413-1942_413-1939del
ENST00000684263.1:c.462_465del	ENSP00000508369.1:p.Phe154LeufsTer?
ENST00000684305.1:c.910_913del	ENSP00000506819.1:n.910_913del
ENST00000684415.1:c.462_465del	ENSP00000507227.1:p.Phe154LeufsTer?
ENST00000684520.1:c.462_465del	ENSP00000506826.1:p.Phe154LeufsTer?
ENST00000684602.1:c.*237-1942_*237-1939del	ENSP00000507996.1:n.*237-1942_*237-1939de...
ENST00000684667.1:c.793_796del	ENSP00000507003.1:n.793_796del
ENST00000268097.10:c.462_465del MANE Select	ENSP00000268097.6:p.Phe154LeufsTer?
ENST00000268097.9:c.462_465del	ENSP00000268097.5:p.Phe154LeufsTer?
ENST00000379915.4:c.412+2383_412+2386del	ENSP00000478716.1:n.412+2383_412+2386del
ENST00000563762.5:c.504-1942_504-1939del	ENSP00000456346.1:n.504-1942_504-1939del
ENST00000566304.5:c.495_498del	ENSP00000455114.1:p.Phe165LeufsTer?
ENST00000566672.5:c.413-1942_413-1939del	ENSP00000457037.1:n.413-1942_413-1939del
ENST00000567027.5:c.334_337del
ENST00000567159.5:c.462_465del	ENSP00000456489.1:p.Phe154LeufsTer?
ENST00000567411.5:c.415_418del	ENSP00000455545.1:p.Leu139IlefsTer?
ENST00000568260.1:c.463_466del
ENST00000568777.5:n.5866_5869del
ENST00000569410.5:c.462_465del	ENSP00000457125.1:p.Phe154LeufsTer?
ENST00000569509.5:n.418-1942_418-1939del
NM_000520.4:c.462_465del	NP_000511.2:p.Phe154LeufsTer?
NM_000520.5:c.462_465del	NP_000511.2:p.Phe154LeufsTer?
NM_001318825.1:c.495_498del	NP_001305754.1:p.Phe165LeufsTer?
NR_134869.1:n.963_966del
NM_000520.6:c.462_465del MANE Select	NP_000511.2:p.Phe154LeufsTer?
NM_001318825.2:c.495_498del	NP_001305754.1:p.Phe165LeufsTer?
NR_134869.2:n.504_507del
NR_134869.3:n.504_507del