Canonical Allele Identifier: CA2186742390

Gene: HEXA

Linked Data

• dbSNP Id: rs2088573584

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343554_72343555del , CM000677.2:g.72343554_72343555del	GRCh38
NC_000015.9:g.72635895_72635896del , CM000677.1:g.72635895_72635896del	GRCh37
NC_000015.8:g.70422949_70422950del	NCBI36
NG_009017.1:g.37628_37629del
NG_009017.2:g.37628_37629del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2342_2343del
ENST00000682235.1:n.2138_2139del
ENST00000682461.1:c.2221_2222del	ENSP00000507308.1:n.2221_2222del
ENST00000682653.1:n.4424_4425del
ENST00000682721.1:c.*1918_*1919del	ENSP00000507535.1:n.*1918_*1919del
ENST00000682843.1:c.*1756_*1757del	ENSP00000508173.1:n.*1756_*1757del
ENST00000683133.1:c.2299_2300del	ENSP00000508108.1:n.2299_2300del
ENST00000683243.1:c.*1268_*1269del	ENSP00000507042.1:n.*1268_*1269del
ENST00000683463.1:c.*1604_*1605del	ENSP00000507986.1:n.*1604_*1605del
ENST00000683548.1:n.2573_2574del
ENST00000683579.1:c.*2013_*2014del	ENSP00000506867.1:n.*2013_*2014del
ENST00000683587.1:n.2646_2647del
ENST00000683735.1:c.*2513_*2514del	ENSP00000508336.1:n.*2513_*2514del
ENST00000683853.1:c.*2225_*2226del	ENSP00000506834.1:n.*2225_*2226del
ENST00000684125.1:c.*775_*776del	ENSP00000507320.1:n.*775_*776del
ENST00000684203.1:n.4564_4565del
ENST00000684231.1:c.*1525_*1526del	ENSP00000507748.1:n.*1525_*1526del
ENST00000684263.1:c.*1739_*1740del	ENSP00000508369.1:n.*1739_*1740del
ENST00000684305.1:c.2563_2564del	ENSP00000506819.1:n.2563_2564del
ENST00000684602.1:c.*1781_*1782del	ENSP00000507996.1:n.*1781_*1782del
ENST00000684667.1:c.2446_2447del	ENSP00000507003.1:n.2446_2447del
ENST00000268097.10:c.*525_*526del MANE Select	ENSP00000268097.6:n.*525_*526del
ENST00000268097.9:c.*525_*526del	ENSP00000268097.5:n.*525_*526del
ENST00000379915.4:c.608+1894_608+1895del	ENSP00000478716.1:n.608+1894_608+1895del
NM_000520.4:c.*525_*526del	NP_000511.2:n.*525_*526del
NM_000520.5:c.*525_*526del	NP_000511.2:n.*525_*526del
NM_001318825.1:c.*525_*526del	NP_001305754.1:n.*525_*526del
NM_000520.6:c.*525_*526del MANE Select	NP_000511.2:n.*525_*526del
NM_001318825.2:c.*525_*526del	NP_001305754.1:n.*525_*526del