Canonical Allele Identifier: CA2186743203

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345342_72345346delinsTGTAA , CM000677.2:g.72345342_72345346delinsTGTAA	GRCh38
NC_000015.9:g.72637683_72637687delinsTGTAA , CM000677.1:g.72637683_72637687delinsTGTAA	GRCh37
NC_000015.8:g.70424737_70424741delinsTGTAA	NCBI36
NG_009017.1:g.35834_35838delinsTTACA
NG_009017.2:g.35834_35838delinsTTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*286_*290delinsTTACA	ENSP00000457521.2:n.*286_*290delinsTTACA
ENST00000682061.1:c.*1972_*1976delinsTTACA	ENSP00000508316.1:n.*1972_*1976delinsTTACA
ENST00000682064.1:n.1753+100_1753+104delinsTTACA
ENST00000682177.1:c.1669_1673delinsTTACA	ENSP00000507409.1:n.1669_1673delinsTTACA
ENST00000682235.1:n.1549+100_1549+104delinsTTACA
ENST00000682461.1:c.1632+100_1632+104delinsTTACA	ENSP00000507308.1:n.1632+100_1632+104delinsTTACA
ENST00000682653.1:n.2630_2634delinsTTACA
ENST00000682657.1:c.*1463_*1467delinsTTACA	ENSP00000507753.1:n.*1463_*1467delinsTTACA
ENST00000682721.1:c.*1329+100_*1329+104delinsTTACA	ENSP00000507535.1:n.*1329+100_*1329+104delinsTTACA
ENST00000682843.1:c.*1167+100_*1167+104delinsTTACA	ENSP00000508173.1:n.*1167+100_*1167+104delinsTTACA
ENST00000683003.1:c.*1463_*1467delinsTTACA	ENSP00000507576.1:n.*1463_*1467delinsTTACA
ENST00000683133.1:c.1710+100_1710+104delinsTTACA	ENSP00000508108.1:n.1710+100_1710+104delinsTTACA
ENST00000683243.1:c.*679+100_*679+104delinsTTACA	ENSP00000507042.1:n.*679+100_*679+104delinsTTACA
ENST00000683463.1:c.*1015+100_*1015+104delinsTTACA	ENSP00000507986.1:n.*1015+100_*1015+104delinsTTACA
ENST00000683548.1:n.1984+100_1984+104delinsTTACA
ENST00000683579.1:c.*1424+100_*1424+104delinsTTACA	ENSP00000506867.1:n.*1424+100_*1424+104delinsTTACA
ENST00000683587.1:n.2057+100_2057+104delinsTTACA
ENST00000683681.1:c.*204+100_*204+104delinsTTACA	ENSP00000508110.1:n.*204+100_*204+104delinsTTACA
ENST00000683735.1:c.*1924+100_*1924+104delinsTTACA	ENSP00000508336.1:n.*1924+100_*1924+104delinsTTACA
ENST00000683853.1:c.*431_*435delinsTTACA	ENSP00000506834.1:n.*431_*435delinsTTACA
ENST00000683860.1:c.*646+100_*646+104delinsTTACA	ENSP00000507179.1:n.*646+100_*646+104delinsTTACA
ENST00000683884.1:c.*953_*957delinsTTACA	ENSP00000507004.1:n.*953_*957delinsTTACA
ENST00000684125.1:c.*186+100_*186+104delinsTTACA	ENSP00000507320.1:n.*186+100_*186+104delinsTTACA
ENST00000684203.1:n.3975+100_3975+104delinsTTACA
ENST00000684231.1:c.*936+100_*936+104delinsTTACA	ENSP00000507748.1:n.*936+100_*936+104delinsTTACA
ENST00000684263.1:c.*1150+100_*1150+104delinsTTACA	ENSP00000508369.1:n.*1150+100_*1150+104delinsTTACA
ENST00000684305.1:c.1974+100_1974+104delinsTTACA	ENSP00000506819.1:n.1974+100_1974+104delinsTTACA
ENST00000684415.1:c.*1177_*1181delinsTTACA	ENSP00000507227.1:n.*1177_*1181delinsTTACA
ENST00000684520.1:c.*885_*889delinsTTACA	ENSP00000506826.1:n.*885_*889delinsTTACA
ENST00000684602.1:c.*1192+100_*1192+104delinsTTACA	ENSP00000507996.1:n.*1192+100_*1192+104delinsTTACA
ENST00000684667.1:c.1857+100_1857+104delinsTTACA	ENSP00000507003.1:n.1857+100_1857+104delinsTTACA
ENST00000268097.10:c.1526+100_1526+104delinsTTACA MANE Select	ENSP00000268097.6:n.1526+100_1526+104delinsTTACA
ENST00000268097.9:c.1526+100_1526+104delinsTTACA	ENSP00000268097.5:n.1526+100_1526+104delinsTTACA
ENST00000379915.4:c.608+100_608+104delinsTTACA	ENSP00000478716.1:n.608+100_608+104delinsTTACA
ENST00000564677.5:n.318+100_318+104delinsTTACA
ENST00000565873.1:n.437+100_437+104delinsTTACA
ENST00000566304.5:c.1559+100_1559+104delinsTTACA	ENSP00000455114.1:n.1559+100_1559+104delinsTTACA
ENST00000567027.5:c.1241_1245delinsTTACA
ENST00000567411.5:c.*1047+100_*1047+104delinsTTACA	ENSP00000455545.1:n.*1047+100_*1047+104delinsTTACA
ENST00000568777.5:n.6846_6850delinsTTACA
ENST00000569116.1:n.333_337delinsTTACA
NM_000520.4:c.1526+100_1526+104delinsTTACA	NP_000511.2:n.1526+100_1526+104delinsTTACA
NM_000520.5:c.1526+100_1526+104delinsTTACA	NP_000511.2:n.1526+100_1526+104delinsTTACA
NM_001318825.1:c.1559+100_1559+104delinsTTACA	NP_001305754.1:n.1559+100_1559+104delinsTTACA
NR_134869.1:n.1870_1874delinsTTACA
NM_000520.6:c.1526+100_1526+104delinsTTACA MANE Select	NP_000511.2:n.1526+100_1526+104delinsTTACA
NM_001318825.2:c.1559+100_1559+104delinsTTACA	NP_001305754.1:n.1559+100_1559+104delinsTTACA
NR_134869.2:n.1411_1415delinsTTACA
NR_134869.3:n.1411_1415delinsTTACA