Canonical Allele Identifier: CA658824871

Gene: HEXA

Linked Data

• ClinVar Variation Id: 553909
• ClinVar RCV Id: RCV000669445
• dbSNP Id: rs1555475498

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72375833_72375834delinsA , CM000677.2:g.72375833_72375834delinsA	GRCh38
NC_000015.9:g.72668174_72668175delinsA , CM000677.1:g.72668174_72668175delinsA	GRCh37
NC_000015.8:g.70455228_70455229delinsA	NCBI36
NG_009017.1:g.5346_5347delinsT
NG_009017.2:g.5346_5347delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.152_153delinsT
ENST00000567027.6:c.139_140delinsT	ENSP00000457521.2:p.Gln47CysfsTer?
ENST00000568260.2:c.139_140delinsT	ENSP00000458128.2:p.Gln47CysfsTer?
ENST00000682061.1:c.139_140delinsT	ENSP00000508316.1:p.Gln47CysfsTer?
ENST00000682177.1:c.139_140delinsT	ENSP00000507409.1:p.Gln47CysfsTer?
ENST00000682461.1:c.139_140delinsT	ENSP00000507308.1:p.Gln47CysfsTer?
ENST00000682653.1:n.170_171delinsT
ENST00000682657.1:c.139_140delinsT	ENSP00000507753.1:p.Gln47CysfsTer?
ENST00000682721.1:c.139_140delinsT	ENSP00000507535.1:p.Gln47CysfsTer?
ENST00000682843.1:c.139_140delinsT	ENSP00000508173.1:p.Gln47CysfsTer?
ENST00000683003.1:c.139_140delinsT	ENSP00000507576.1:p.Gln47CysfsTer?
ENST00000683133.1:c.139_140delinsT	ENSP00000508108.1:p.Gln47CysfsTer?
ENST00000683228.1:n.170_171delinsT
ENST00000683243.1:c.139_140delinsT	ENSP00000507042.1:p.Gln47CysfsTer?
ENST00000683463.1:c.139_140delinsT	ENSP00000507986.1:p.Gln47CysfsTer?
ENST00000683548.1:n.170_171delinsT
ENST00000683579.1:c.139_140delinsT	ENSP00000506867.1:p.Gln47CysfsTer?
ENST00000683587.1:n.170_171delinsT
ENST00000683681.1:c.139_140delinsT	ENSP00000508110.1:p.Gln47CysfsTer?
ENST00000683735.1:c.139_140delinsT	ENSP00000508336.1:p.Gln47CysfsTer?
ENST00000683853.1:c.139_140delinsT	ENSP00000506834.1:p.Gln47CysfsTer?
ENST00000683860.1:c.139_140delinsT	ENSP00000507179.1:p.Gln47CysfsTer?
ENST00000683884.1:c.139_140delinsT	ENSP00000507004.1:p.Gln47CysfsTer?
ENST00000684041.1:c.139_140delinsT	ENSP00000508382.1:p.Gln47CysfsTer?
ENST00000684125.1:c.139_140delinsT	ENSP00000507320.1:p.Gln47CysfsTer?
ENST00000684203.1:n.156_157delinsT
ENST00000684231.1:c.139_140delinsT	ENSP00000507748.1:p.Gln47CysfsTer?
ENST00000684263.1:c.139_140delinsT	ENSP00000508369.1:p.Gln47CysfsTer?
ENST00000684305.1:c.139_140delinsT	ENSP00000506819.1:p.Gln47CysfsTer?
ENST00000684415.1:c.139_140delinsT	ENSP00000507227.1:p.Gln47CysfsTer?
ENST00000684520.1:c.139_140delinsT	ENSP00000506826.1:p.Gln47CysfsTer?
ENST00000684602.1:c.139_140delinsT	ENSP00000507996.1:p.Gln47CysfsTer?
ENST00000684667.1:c.139_140delinsT	ENSP00000507003.1:p.Gln47CysfsTer?
ENST00000268097.10:c.139_140delinsT MANE Select	ENSP00000268097.6:p.Gln47CysfsTer?
ENST00000268097.9:c.139_140delinsT	ENSP00000268097.5:p.Gln47CysfsTer?
ENST00000379915.4:c.139_140delinsT	ENSP00000478716.1:p.Gln47CysfsTer?
ENST00000563762.5:c.139_140delinsT	ENSP00000456346.1:p.Gln47CysfsTer?
ENST00000563908.1:n.136_137delinsT
ENST00000566304.5:c.139_140delinsT	ENSP00000455114.1:p.Gln47CysfsTer?
ENST00000566672.5:c.139_140delinsT	ENSP00000457037.1:p.Gln47CysfsTer?
ENST00000567027.5:c.11_12delinsT
ENST00000567159.5:c.139_140delinsT	ENSP00000456489.1:p.Gln47CysfsTer?
ENST00000567213.2:c.139_140delinsT	ENSP00000478217.1:p.Gln47CysfsTer?
ENST00000567411.5:c.139_140delinsT	ENSP00000455545.1:p.Gln47CysfsTer?
ENST00000568260.1:c.120_121delinsT
ENST00000569410.5:c.139_140delinsT	ENSP00000457125.1:p.Gln47CysfsTer?
ENST00000569509.5:n.147-3_147-2delinsT
NM_000520.4:c.139_140delinsT	NP_000511.2:p.Gln47CysfsTer?
NM_000520.5:c.139_140delinsT	NP_000511.2:p.Gln47CysfsTer?
NM_001318825.1:c.139_140delinsT	NP_001305754.1:p.Gln47CysfsTer?
NR_134869.1:n.640_641delinsT
NM_000520.6:c.139_140delinsT MANE Select	NP_000511.2:p.Gln47CysfsTer?
NM_001318825.2:c.139_140delinsT	NP_001305754.1:p.Gln47CysfsTer?
NR_134869.2:n.181_182delinsT
NR_134869.3:n.181_182delinsT