Canonical Allele Identifier: CA2186743127

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345210_72345221delinsAATATAAATGCT , CM000677.2:g.72345210_72345221delinsAATATAAATGCT	GRCh38
NC_000015.9:g.72637551_72637562delinsAATATAAATGCT , CM000677.1:g.72637551_72637562delinsAATATAAATGCT	GRCh37
NC_000015.8:g.70424605_70424616delinsAATATAAATGCT	NCBI36
NG_009017.1:g.35959_35970delinsAGCATTTATATT
NG_009017.2:g.35959_35970delinsAGCATTTATATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.1753+225_1753+236delinsAGCATTTATATT
ENST00000682235.1:n.1549+225_1549+236delinsAGCATTTATATT
ENST00000682461.1:c.1632+225_1632+236delinsAGCATTTATATT	ENSP00000507308.1:n.1632+225_1632+236delinsAGCATTTATATT
ENST00000682653.1:n.2755_2766delinsAGCATTTATATT
ENST00000682721.1:c.*1329+225_*1329+236delinsAGCATTTATATT	ENSP00000507535.1:n.*1329+225_*1329+236delinsAGCATTTATATT
ENST00000682843.1:c.*1167+225_*1167+236delinsAGCATTTATATT	ENSP00000508173.1:n.*1167+225_*1167+236delinsAGCATTTATATT
ENST00000683133.1:c.1710+225_1710+236delinsAGCATTTATATT	ENSP00000508108.1:n.1710+225_1710+236delinsAGCATTTATATT
ENST00000683243.1:c.*679+225_*679+236delinsAGCATTTATATT	ENSP00000507042.1:n.*679+225_*679+236delinsAGCATTTATATT
ENST00000683463.1:c.*1015+225_*1015+236delinsAGCATTTATATT	ENSP00000507986.1:n.*1015+225_*1015+236delinsAGCATTTATATT
ENST00000683548.1:n.1984+225_1984+236delinsAGCATTTATATT
ENST00000683579.1:c.*1424+225_*1424+236delinsAGCATTTATATT	ENSP00000506867.1:n.*1424+225_*1424+236delinsAGCATTTATATT
ENST00000683587.1:n.2057+225_2057+236delinsAGCATTTATATT
ENST00000683681.1:c.*204+225_*204+236delinsAGCATTTATATT	ENSP00000508110.1:n.*204+225_*204+236delinsAGCATTTATATT
ENST00000683735.1:c.*1924+225_*1924+236delinsAGCATTTATATT	ENSP00000508336.1:n.*1924+225_*1924+236delinsAGCATTTATATT
ENST00000683853.1:c.*556_*567delinsAGCATTTATATT	ENSP00000506834.1:n.*556_*567delinsAGCATTTATATT
ENST00000683860.1:c.*646+225_*646+236delinsAGCATTTATATT	ENSP00000507179.1:n.*646+225_*646+236delinsAGCATTTATATT
ENST00000684125.1:c.*186+225_*186+236delinsAGCATTTATATT	ENSP00000507320.1:n.*186+225_*186+236delinsAGCATTTATATT
ENST00000684203.1:n.3975+225_3975+236delinsAGCATTTATATT
ENST00000684231.1:c.*936+225_*936+236delinsAGCATTTATATT	ENSP00000507748.1:n.*936+225_*936+236delinsAGCATTTATATT
ENST00000684263.1:c.*1150+225_*1150+236delinsAGCATTTATATT	ENSP00000508369.1:n.*1150+225_*1150+236delinsAGCATTTATATT
ENST00000684305.1:c.1974+225_1974+236delinsAGCATTTATATT	ENSP00000506819.1:n.1974+225_1974+236delinsAGCATTTATATT
ENST00000684602.1:c.*1192+225_*1192+236delinsAGCATTTATATT	ENSP00000507996.1:n.*1192+225_*1192+236delinsAGCATTTATATT
ENST00000684667.1:c.1857+225_1857+236delinsAGCATTTATATT	ENSP00000507003.1:n.1857+225_1857+236delinsAGCATTTATATT
ENST00000268097.10:c.1526+225_1526+236delinsAGCATTTATATT MANE Select	ENSP00000268097.6:n.1526+225_1526+236delinsAGCATTTATATT
ENST00000268097.9:c.1526+225_1526+236delinsAGCATTTATATT	ENSP00000268097.5:n.1526+225_1526+236delinsAGCATTTATATT
ENST00000379915.4:c.608+225_608+236delinsAGCATTTATATT	ENSP00000478716.1:n.608+225_608+236delinsAGCATTTATATT
ENST00000564677.5:n.318+225_318+236delinsAGCATTTATATT
ENST00000565873.1:n.437+225_437+236delinsAGCATTTATATT
ENST00000566304.5:c.1559+225_1559+236delinsAGCATTTATATT	ENSP00000455114.1:n.1559+225_1559+236delinsAGCATTTATATT
ENST00000567411.5:c.*1047+225_*1047+236delinsAGCATTTATATT	ENSP00000455545.1:n.*1047+225_*1047+236delinsAGCATTTATATT
NM_000520.4:c.1526+225_1526+236delinsAGCATTTATATT	NP_000511.2:n.1526+225_1526+236delinsAGCATTTATATT
NM_000520.5:c.1526+225_1526+236delinsAGCATTTATATT	NP_000511.2:n.1526+225_1526+236delinsAGCATTTATATT
NM_001318825.1:c.1559+225_1559+236delinsAGCATTTATATT	NP_001305754.1:n.1559+225_1559+236delinsAGCATTTATATT
NR_134869.1:n.1995_2006delinsAGCATTTATATT
NM_000520.6:c.1526+225_1526+236delinsAGCATTTATATT MANE Select	NP_000511.2:n.1526+225_1526+236delinsAGCATTTATATT
NM_001318825.2:c.1559+225_1559+236delinsAGCATTTATATT	NP_001305754.1:n.1559+225_1559+236delinsAGCATTTATATT
NR_134869.2:n.1536_1547delinsAGCATTTATATT