Canonical Allele Identifier: CA2499223075
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1192227
ClinVar RCV Id: RCV001553631
dbSNP Id: rs2140319516

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345420_72345448del , CM000677.2:g.72345420_72345448del GRCh38
NC_000015.9:g.72637761_72637789del , CM000677.1:g.72637761_72637789del GRCh37
NC_000015.8:g.70424815_70424843del NCBI36
NG_009017.1:g.35733_35761del
NG_009017.2:g.35733_35761del

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.*185_*213del ENSP00000457521.2:n.*185_*213del
ENST00000682061.1:c.*1871_*1899del ENSP00000508316.1:n.*1871_*1899del
ENST00000682064.1:n.1752_1753+27del
ENST00000682177.1:c.1568_1596del ENSP00000507409.1:n.1568_1596del
ENST00000682235.1:n.1548_1549+27del
ENST00000682461.1:c.1631_1632+27del
ENST00000682653.1:n.2529_2557del
ENST00000682657.1:c.*1362_*1390del ENSP00000507753.1:n.*1362_*1390del
ENST00000682721.1:c.*1328_*1329+27del
ENST00000682843.1:c.*1166_*1167+27del
ENST00000683003.1:c.*1362_*1390del ENSP00000507576.1:n.*1362_*1390del
ENST00000683133.1:c.1709_1710+27del
ENST00000683243.1:c.*678_*679+27del
ENST00000683463.1:c.*1014_*1015+27del
ENST00000683548.1:n.1983_1984+27del
ENST00000683579.1:c.*1423_*1424+27del
ENST00000683587.1:n.2056_2057+27del
ENST00000683681.1:c.*203_*204+27del
ENST00000683735.1:c.*1923_*1924+27del
ENST00000683853.1:c.*330_*358del ENSP00000506834.1:n.*330_*358del
ENST00000683860.1:c.*645_*646+27del
ENST00000683884.1:c.*852_*880del ENSP00000507004.1:n.*852_*880del
ENST00000684125.1:c.*185_*186+27del
ENST00000684203.1:n.3974_3975+27del
ENST00000684231.1:c.*935_*936+27del
ENST00000684263.1:c.*1149_*1150+27del
ENST00000684305.1:c.1973_1974+27del
ENST00000684415.1:c.*1076_*1104del ENSP00000507227.1:n.*1076_*1104del
ENST00000684520.1:c.*784_*812del ENSP00000506826.1:n.*784_*812del
ENST00000684602.1:c.*1191_*1192+27del
ENST00000684667.1:c.1856_1857+27del
ENST00000268097.10:c.1525_1526+27del
ENST00000268097.9:c.1525_1526+27del
ENST00000379915.4:c.607_608+27del
ENST00000564677.5:n.317_318+27del
ENST00000565873.1:n.436_437+27del
ENST00000566304.5:c.1558_1559+27del
ENST00000567027.5:c.1140_1168del
ENST00000567159.5:c.1525_*23del ENSP00000456489.1:n.[c.1525_*23del;Arg509AlafsTer?]
ENST00000567411.5:c.*1046_*1047+27del
ENST00000568777.5:n.6745_6773del
ENST00000569116.1:n.232_260del
NM_000520.4:c.1525_1526+27del
NM_000520.5:c.1525_1526+27del
NM_001318825.1:c.1558_1559+27del
NR_134869.1:n.1769_1797del
NM_000520.6:c.1525_1526+27del
NM_001318825.2:c.1558_1559+27del
NR_134869.2:n.1310_1338del
NR_134869.3:n.1310_1338del