Canonical Allele Identifier: CA2186746516

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72353131_72353134delinsGTGA , CM000677.2:g.72353131_72353134delinsGTGA	GRCh38
NC_000015.9:g.72645472_72645475delinsGTGA , CM000677.1:g.72645472_72645475delinsGTGA	GRCh37
NC_000015.8:g.70432526_70432529delinsGTGA	NCBI36
NG_009017.1:g.28046_28049delinsTCAC
NG_009017.2:g.28046_28049delinsTCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.2850_2853delinsTCAC
ENST00000567027.6:c.504_507delinsTCAC	ENSP00000457521.2:p.Pro168=
ENST00000568260.2:c.524_527delinsTCAC	ENSP00000458128.2:n.524_527delinsTCAC
ENST00000682061.1:c.*166_*169delinsTCAC	ENSP00000508316.1:n.*166_*169delinsTCAC
ENST00000682177.1:c.504_507delinsTCAC	ENSP00000507409.1:p.Pro168=
ENST00000682461.1:c.677-1900_677-1897delinsTCAC	ENSP00000507308.1:n.677-1900_677-1897deli...
ENST00000682653.1:n.535_538delinsTCAC
ENST00000682657.1:c.254-1900_254-1897delinsTCAC	ENSP00000507753.1:n.254-1900_254-1897deli...
ENST00000682721.1:c.*307_*310delinsTCAC	ENSP00000507535.1:n.*307_*310delinsTCAC
ENST00000682843.1:c.*402_*405delinsTCAC	ENSP00000508173.1:n.*402_*405delinsTCAC
ENST00000683003.1:c.413-1900_413-1897delinsTCAC	ENSP00000507576.1:n.413-1900_413-1897deli...
ENST00000683133.1:c.688_691delinsTCAC	ENSP00000508108.1:n.688_691delinsTCAC
ENST00000683228.1:n.535_538delinsTCAC
ENST00000683243.1:c.413-1900_413-1897delinsTCAC	ENSP00000507042.1:n.413-1900_413-1897deli...
ENST00000683463.1:c.504_507delinsTCAC	ENSP00000507986.1:p.Pro168=
ENST00000683548.1:n.535_538delinsTCAC
ENST00000683579.1:c.*402_*405delinsTCAC	ENSP00000506867.1:n.*402_*405delinsTCAC
ENST00000683587.1:n.535_538delinsTCAC
ENST00000683681.1:c.504_507delinsTCAC	ENSP00000508110.1:p.Pro168=
ENST00000683735.1:c.*402_*405delinsTCAC	ENSP00000508336.1:n.*402_*405delinsTCAC
ENST00000683853.1:c.504_507delinsTCAC	ENSP00000506834.1:p.Pro168=
ENST00000683860.1:c.504_507delinsTCAC	ENSP00000507179.1:p.Pro168=
ENST00000683884.1:c.504_507delinsTCAC	ENSP00000507004.1:p.Pro168=
ENST00000684041.1:c.504_507delinsTCAC	ENSP00000508382.1:p.Pro168=
ENST00000684125.1:c.504_507delinsTCAC	ENSP00000507320.1:p.Pro168=
ENST00000684203.1:n.2342_2345delinsTCAC
ENST00000684231.1:c.413-1900_413-1897delinsTCAC	ENSP00000507748.1:n.413-1900_413-1897deli...
ENST00000684263.1:c.504_507delinsTCAC	ENSP00000508369.1:p.Pro168=
ENST00000684305.1:c.952_955delinsTCAC	ENSP00000506819.1:n.952_955delinsTCAC
ENST00000684415.1:c.504_507delinsTCAC	ENSP00000507227.1:p.Pro168=
ENST00000684520.1:c.504_507delinsTCAC	ENSP00000506826.1:p.Pro168=
ENST00000684602.1:c.*237-1900_*237-1897delinsTCAC	ENSP00000507996.1:n.*237-1900_*237-1897de...
ENST00000684667.1:c.835_838delinsTCAC	ENSP00000507003.1:n.835_838delinsTCAC
ENST00000268097.10:c.504_507delinsTCAC MANE Select	ENSP00000268097.6:p.Pro168=
ENST00000268097.9:c.504_507delinsTCAC	ENSP00000268097.5:p.Pro168=
ENST00000379915.4:c.412+2425_412+2428delinsTCAC	ENSP00000478716.1:n.412+2425_412+2428deli...
ENST00000563762.5:c.504-1900_504-1897delinsTCAC	ENSP00000456346.1:n.504-1900_504-1897deli...
ENST00000566304.5:c.537_540delinsTCAC	ENSP00000455114.1:p.Pro179=
ENST00000566672.5:c.413-1900_413-1897delinsTCAC	ENSP00000457037.1:n.413-1900_413-1897deli...
ENST00000567027.5:c.376_379delinsTCAC
ENST00000567159.5:c.504_507delinsTCAC	ENSP00000456489.1:p.Pro168=
ENST00000567411.5:c.*25_*28delinsTCAC	ENSP00000455545.1:n.*25_*28delinsTCAC
ENST00000568260.1:c.505_508delinsTCAC
ENST00000568777.5:n.5908_5911delinsTCAC
ENST00000569410.5:c.504_507delinsTCAC	ENSP00000457125.1:p.Pro168=
ENST00000569509.5:n.418-1900_418-1897delinsTCAC
NM_000520.4:c.504_507delinsTCAC	NP_000511.2:p.Pro168=
NM_000520.5:c.504_507delinsTCAC	NP_000511.2:p.Pro168=
NM_001318825.1:c.537_540delinsTCAC	NP_001305754.1:p.Pro179=
NR_134869.1:n.1005_1008delinsTCAC
NM_000520.6:c.504_507delinsTCAC MANE Select	NP_000511.2:p.Pro168=
NM_001318825.2:c.537_540delinsTCAC	NP_001305754.1:p.Pro179=
NR_134869.2:n.546_549delinsTCAC
NR_134869.3:n.546_549delinsTCAC