Canonical Allele Identifier: CA2186746511

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353125_72353128delinsGCCC , CM000677.2:g.72353125_72353128delinsGCCC	GRCh38
NC_000015.9:g.72645466_72645469delinsGCCC , CM000677.1:g.72645466_72645469delinsGCCC	GRCh37
NC_000015.8:g.70432520_70432523delinsGCCC	NCBI36
NG_009017.1:g.28052_28055delinsGGGC
NG_009017.2:g.28052_28055delinsGGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2856_2859delinsGGGC
ENST00000567027.6:c.510_513delinsGGGC	ENSP00000457521.2:p.Arg170=
ENST00000568260.2:c.530_533delinsGGGC	ENSP00000458128.2:n.530_533delinsGGGC
ENST00000682061.1:c.*172_*175delinsGGGC	ENSP00000508316.1:n.*172_*175delinsGGGC
ENST00000682177.1:c.510_513delinsGGGC	ENSP00000507409.1:p.Arg170=
ENST00000682461.1:c.677-1894_677-1891delinsGGGC	ENSP00000507308.1:n.677-1894_677-1891deli...
ENST00000682653.1:n.541_544delinsGGGC
ENST00000682657.1:c.254-1894_254-1891delinsGGGC	ENSP00000507753.1:n.254-1894_254-1891deli...
ENST00000682721.1:c.*313_*316delinsGGGC	ENSP00000507535.1:n.*313_*316delinsGGGC
ENST00000682843.1:c.*408_*411delinsGGGC	ENSP00000508173.1:n.*408_*411delinsGGGC
ENST00000683003.1:c.413-1894_413-1891delinsGGGC	ENSP00000507576.1:n.413-1894_413-1891deli...
ENST00000683133.1:c.694_697delinsGGGC	ENSP00000508108.1:n.694_697delinsGGGC
ENST00000683228.1:n.541_544delinsGGGC
ENST00000683243.1:c.413-1894_413-1891delinsGGGC	ENSP00000507042.1:n.413-1894_413-1891deli...
ENST00000683463.1:c.510_513delinsGGGC	ENSP00000507986.1:p.Arg170=
ENST00000683548.1:n.541_544delinsGGGC
ENST00000683579.1:c.*408_*411delinsGGGC	ENSP00000506867.1:n.*408_*411delinsGGGC
ENST00000683587.1:n.541_544delinsGGGC
ENST00000683681.1:c.510_513delinsGGGC	ENSP00000508110.1:p.Arg170=
ENST00000683735.1:c.*408_*411delinsGGGC	ENSP00000508336.1:n.*408_*411delinsGGGC
ENST00000683853.1:c.510_513delinsGGGC	ENSP00000506834.1:p.Arg170=
ENST00000683860.1:c.510_513delinsGGGC	ENSP00000507179.1:p.Arg170=
ENST00000683884.1:c.510_513delinsGGGC	ENSP00000507004.1:p.Arg170=
ENST00000684041.1:c.510_513delinsGGGC	ENSP00000508382.1:p.Arg170=
ENST00000684125.1:c.510_513delinsGGGC	ENSP00000507320.1:p.Arg170=
ENST00000684203.1:n.2348_2351delinsGGGC
ENST00000684231.1:c.413-1894_413-1891delinsGGGC	ENSP00000507748.1:n.413-1894_413-1891deli...
ENST00000684263.1:c.510_513delinsGGGC	ENSP00000508369.1:p.Arg170=
ENST00000684305.1:c.958_961delinsGGGC	ENSP00000506819.1:n.958_961delinsGGGC
ENST00000684415.1:c.510_513delinsGGGC	ENSP00000507227.1:p.Arg170=
ENST00000684520.1:c.510_513delinsGGGC	ENSP00000506826.1:p.Arg170=
ENST00000684602.1:c.*237-1894_*237-1891delinsGGGC	ENSP00000507996.1:n.*237-1894_*237-1891de...
ENST00000684667.1:c.841_844delinsGGGC	ENSP00000507003.1:n.841_844delinsGGGC
ENST00000268097.10:c.510_513delinsGGGC MANE Select	ENSP00000268097.6:p.Arg170=
ENST00000268097.9:c.510_513delinsGGGC	ENSP00000268097.5:p.Arg170=
ENST00000379915.4:c.412+2431_412+2434delinsGGGC	ENSP00000478716.1:n.412+2431_412+2434deli...
ENST00000563762.5:c.504-1894_504-1891delinsGGGC	ENSP00000456346.1:n.504-1894_504-1891deli...
ENST00000566304.5:c.543_546delinsGGGC	ENSP00000455114.1:p.Arg181=
ENST00000566672.5:c.413-1894_413-1891delinsGGGC	ENSP00000457037.1:n.413-1894_413-1891deli...
ENST00000567027.5:c.382_385delinsGGGC
ENST00000567159.5:c.510_513delinsGGGC	ENSP00000456489.1:p.Arg170=
ENST00000567411.5:c.*31_*34delinsGGGC	ENSP00000455545.1:n.*31_*34delinsGGGC
ENST00000568260.1:c.511_514delinsGGGC
ENST00000568777.5:n.5914_5917delinsGGGC
ENST00000569410.5:c.510_513delinsGGGC	ENSP00000457125.1:p.Arg170=
ENST00000569509.5:n.418-1894_418-1891delinsGGGC
NM_000520.4:c.510_513delinsGGGC	NP_000511.2:p.Arg170=
NM_000520.5:c.510_513delinsGGGC	NP_000511.2:p.Arg170=
NM_001318825.1:c.543_546delinsGGGC	NP_001305754.1:p.Arg181=
NR_134869.1:n.1011_1014delinsGGGC
NM_000520.6:c.510_513delinsGGGC MANE Select	NP_000511.2:p.Arg170=
NM_001318825.2:c.543_546delinsGGGC	NP_001305754.1:p.Arg181=
NR_134869.2:n.552_555delinsGGGC
NR_134869.3:n.552_555delinsGGGC