Canonical Allele Identifier: CA2186745644

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72351170_72351174delinsGGGAA , CM000677.2:g.72351170_72351174delinsGGGAA	GRCh38
NC_000015.9:g.72643511_72643515delinsGGGAA , CM000677.1:g.72643511_72643515delinsGGGAA	GRCh37
NC_000015.8:g.70430565_70430569delinsGGGAA	NCBI36
NG_009017.1:g.30006_30010delinsTTCCC
NG_009017.2:g.30006_30010delinsTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.2977_2981delinsTTCCC
ENST00000567027.6:c.631_635delinsTTCCC	ENSP00000457521.2:p.Phe211=
ENST00000568260.2:c.651_655delinsTTCCC	ENSP00000458128.2:n.651_655delinsTTCCC
ENST00000682061.1:c.*293_*297delinsTTCCC	ENSP00000508316.1:n.*293_*297delinsTTCCC
ENST00000682177.1:c.631_635delinsTTCCC	ENSP00000507409.1:p.Phe211=
ENST00000682461.1:c.737_741delinsTTCCC	ENSP00000507308.1:n.737_741delinsTTCCC
ENST00000682653.1:n.662_666delinsTTCCC
ENST00000682657.1:c.*41_*45delinsTTCCC	ENSP00000507753.1:n.*41_*45delinsTTCCC
ENST00000682721.1:c.*434_*438delinsTTCCC	ENSP00000507535.1:n.*434_*438delinsTTCCC
ENST00000682843.1:c.*529_*533delinsTTCCC	ENSP00000508173.1:n.*529_*533delinsTTCCC
ENST00000683003.1:c.*41_*45delinsTTCCC	ENSP00000507576.1:n.*41_*45delinsTTCCC
ENST00000683133.1:c.815_819delinsTTCCC	ENSP00000508108.1:n.815_819delinsTTCCC
ENST00000683228.1:n.662_666delinsTTCCC
ENST00000683243.1:c.*41_*45delinsTTCCC	ENSP00000507042.1:n.*41_*45delinsTTCCC
ENST00000683463.1:c.631_635delinsTTCCC	ENSP00000507986.1:p.Phe211=
ENST00000683548.1:n.662_666delinsTTCCC
ENST00000683579.1:c.*529_*533delinsTTCCC	ENSP00000506867.1:n.*529_*533delinsTTCCC
ENST00000683587.1:n.662_666delinsTTCCC
ENST00000683681.1:c.631_635delinsTTCCC	ENSP00000508110.1:p.Phe211=
ENST00000683735.1:c.*529_*533delinsTTCCC	ENSP00000508336.1:n.*529_*533delinsTTCCC
ENST00000683742.1:n.462_466delinsTTCCC
ENST00000683853.1:c.631_635delinsTTCCC	ENSP00000506834.1:p.Phe211=
ENST00000683860.1:c.631_635delinsTTCCC	ENSP00000507179.1:p.Phe211=
ENST00000683884.1:c.631_635delinsTTCCC	ENSP00000507004.1:p.Phe211=
ENST00000684041.1:c.631_635delinsTTCCC	ENSP00000508382.1:p.Phe211=
ENST00000684125.1:c.631_635delinsTTCCC	ENSP00000507320.1:p.Phe211=
ENST00000684203.1:n.2469_2473delinsTTCCC
ENST00000684231.1:c.*41_*45delinsTTCCC	ENSP00000507748.1:n.*41_*45delinsTTCCC
ENST00000684263.1:c.631_635delinsTTCCC	ENSP00000508369.1:p.Phe211=
ENST00000684305.1:c.1079_1083delinsTTCCC	ENSP00000506819.1:n.1079_1083delinsTTCCC
ENST00000684415.1:c.631_635delinsTTCCC	ENSP00000507227.1:p.Phe211=
ENST00000684520.1:c.631_635delinsTTCCC	ENSP00000506826.1:p.Phe211=
ENST00000684602.1:c.*297_*301delinsTTCCC	ENSP00000507996.1:n.*297_*301delinsTTCCC
ENST00000684667.1:c.962_966delinsTTCCC	ENSP00000507003.1:n.962_966delinsTTCCC
ENST00000268097.10:c.631_635delinsTTCCC MANE Select	ENSP00000268097.6:p.Phe211=
ENST00000268097.9:c.631_635delinsTTCCC	ENSP00000268097.5:p.Phe211=
ENST00000379915.4:c.412+4385_412+4389delinsTTCCC	ENSP00000478716.1:n.412+4385_412+4389delinsTTCCC
ENST00000563762.5:c.564_568delinsTTCCC	ENSP00000456346.1:n.564_568delinsTTCCC
ENST00000566304.5:c.664_668delinsTTCCC	ENSP00000455114.1:p.Phe222=
ENST00000566672.5:c.*41_*45delinsTTCCC	ENSP00000457037.1:n.*41_*45delinsTTCCC
ENST00000567027.5:c.503_507delinsTTCCC
ENST00000567159.5:c.631_635delinsTTCCC	ENSP00000456489.1:p.Phe211=
ENST00000567411.5:c.*152_*156delinsTTCCC	ENSP00000455545.1:n.*152_*156delinsTTCCC
ENST00000568260.1:c.632_636delinsTTCCC
ENST00000568777.5:n.6035_6039delinsTTCCC
ENST00000569410.5:c.631_635delinsTTCCC	ENSP00000457125.1:p.Phe211=
ENST00000569509.5:n.478_482delinsTTCCC
NM_000520.4:c.631_635delinsTTCCC	NP_000511.2:p.Phe211=
NM_000520.5:c.631_635delinsTTCCC	NP_000511.2:p.Phe211=
NM_001318825.1:c.664_668delinsTTCCC	NP_001305754.1:p.Phe222=
NR_134869.1:n.1132_1136delinsTTCCC
NM_000520.6:c.631_635delinsTTCCC MANE Select	NP_000511.2:p.Phe211=
NM_001318825.2:c.664_668delinsTTCCC	NP_001305754.1:p.Phe222=
NR_134869.2:n.673_677delinsTTCCC
NR_134869.3:n.673_677delinsTTCCC