Canonical Allele Identifier: CA913185095

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353726_72353727del , CM000677.2:g.72353726_72353727del	GRCh38
NC_000015.9:g.72646067_72646068del , CM000677.1:g.72646067_72646068del	GRCh37
NC_000015.8:g.70433121_70433122del	NCBI36
NG_009017.1:g.27455_27456del
NG_009017.2:g.27455_27456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.2259_2260del
ENST00000567027.6:c.425_426del	ENSP00000457521.2:p.Phe142Ter
ENST00000568260.2:c.480-547_480-546del	ENSP00000458128.2:n.480-547_480-546del
ENST00000682061.1:c.*87_*88del	ENSP00000508316.1:n.*87_*88del
ENST00000682177.1:c.425_426del	ENSP00000507409.1:p.Phe142Ter
ENST00000682461.1:c.676+1834_676+1835del	ENSP00000507308.1:n.676+1834_676+1835del
ENST00000682653.1:n.456_457del
ENST00000682657.1:c.254-2491_254-2490del	ENSP00000507753.1:n.254-2491_254-2490del
ENST00000682721.1:c.*228_*229del	ENSP00000507535.1:n.*228_*229del
ENST00000682843.1:c.*323_*324del	ENSP00000508173.1:n.*323_*324del
ENST00000683003.1:c.412+1834_412+1835del	ENSP00000507576.1:n.412+1834_412+1835del
ENST00000683133.1:c.609_610del	ENSP00000508108.1:n.609_610del
ENST00000683228.1:n.456_457del
ENST00000683243.1:c.412+1834_412+1835del	ENSP00000507042.1:n.412+1834_412+1835del
ENST00000683463.1:c.425_426del	ENSP00000507986.1:p.Phe142Ter
ENST00000683548.1:n.456_457del
ENST00000683579.1:c.*323_*324del	ENSP00000506867.1:n.*323_*324del
ENST00000683587.1:n.456_457del
ENST00000683681.1:c.425_426del	ENSP00000508110.1:p.Phe142Ter
ENST00000683735.1:c.*323_*324del	ENSP00000508336.1:n.*323_*324del
ENST00000683853.1:c.425_426del	ENSP00000506834.1:p.Phe142Ter
ENST00000683860.1:c.425_426del	ENSP00000507179.1:p.Phe142Ter
ENST00000683884.1:c.425_426del	ENSP00000507004.1:p.Phe142Ter
ENST00000684041.1:c.425_426del	ENSP00000508382.1:p.Phe142Ter
ENST00000684125.1:c.425_426del	ENSP00000507320.1:p.Phe142Ter
ENST00000684203.1:n.2263_2264del
ENST00000684231.1:c.412+1834_412+1835del	ENSP00000507748.1:n.412+1834_412+1835del
ENST00000684263.1:c.425_426del	ENSP00000508369.1:p.Phe142Ter
ENST00000684305.1:c.873_874del	ENSP00000506819.1:n.873_874del
ENST00000684415.1:c.425_426del	ENSP00000507227.1:p.Phe142Ter
ENST00000684520.1:c.425_426del	ENSP00000506826.1:p.Phe142Ter
ENST00000684602.1:c.*236+1834_*236+1835del	ENSP00000507996.1:n.*236+1834_*236+1835del
ENST00000684667.1:c.756_757del	ENSP00000507003.1:n.756_757del
ENST00000268097.10:c.425_426del MANE Select	ENSP00000268097.6:p.Phe142Ter
ENST00000268097.9:c.425_426del	ENSP00000268097.5:p.Phe142Ter
ENST00000379915.4:c.412+1834_412+1835del	ENSP00000478716.1:n.412+1834_412+1835del
ENST00000563762.5:c.503+1834_503+1835del	ENSP00000456346.1:n.503+1834_503+1835del
ENST00000566304.5:c.458_459del	ENSP00000455114.1:p.Phe153Ter
ENST00000566672.5:c.412+1834_412+1835del	ENSP00000457037.1:n.412+1834_412+1835del
ENST00000567027.5:c.297_298del
ENST00000567159.5:c.425_426del	ENSP00000456489.1:p.Phe142Ter
ENST00000567411.5:c.413-547_413-546del	ENSP00000455545.1:n.413-547_413-546del
ENST00000568260.1:c.461-547_461-546del
ENST00000568777.5:n.5829_5830del
ENST00000569410.5:c.425_426del	ENSP00000457125.1:p.Phe142Ter
ENST00000569509.5:n.417+1834_417+1835del
NM_000520.4:c.425_426del	NP_000511.2:p.Phe142Ter
NM_000520.5:c.425_426del	NP_000511.2:p.Phe142Ter
NM_001318825.1:c.458_459del	NP_001305754.1:p.Phe153Ter
NR_134869.1:n.926_927del
NM_000520.6:c.425_426del MANE Select	NP_000511.2:p.Phe142Ter
NM_001318825.2:c.458_459del	NP_001305754.1:p.Phe153Ter
NR_134869.2:n.467_468del
NR_134869.3:n.467_468del