Canonical Allele Identifier: CA2186743027

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72344982_72344985delinsTGTG , CM000677.2:g.72344982_72344985delinsTGTG	GRCh38
NC_000015.9:g.72637323_72637326delinsTGTG , CM000677.1:g.72637323_72637326delinsTGTG	GRCh37
NC_000015.8:g.70424377_70424380delinsTGTG	NCBI36
NG_009017.1:g.36195_36198delinsCACA
NG_009017.2:g.36195_36198delinsCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.1753+461_1753+464delinsCACA
ENST00000682235.1:n.1549+461_1549+464delinsCACA
ENST00000682461.1:c.1632+461_1632+464delinsCACA	ENSP00000507308.1:n.1632+461_1632+464delinsCACA
ENST00000682653.1:n.2991_2994delinsCACA
ENST00000682721.1:c.*1329+461_*1329+464delinsCACA	ENSP00000507535.1:n.*1329+461_*1329+464delinsCACA
ENST00000682843.1:c.*1167+461_*1167+464delinsCACA	ENSP00000508173.1:n.*1167+461_*1167+464delinsCACA
ENST00000683133.1:c.1710+461_1710+464delinsCACA	ENSP00000508108.1:n.1710+461_1710+464delinsCACA
ENST00000683243.1:c.*679+461_*679+464delinsCACA	ENSP00000507042.1:n.*679+461_*679+464delinsCACA
ENST00000683463.1:c.*1015+461_*1015+464delinsCACA	ENSP00000507986.1:n.*1015+461_*1015+464delinsCACA
ENST00000683548.1:n.1984+461_1984+464delinsCACA
ENST00000683579.1:c.*1424+461_*1424+464delinsCACA	ENSP00000506867.1:n.*1424+461_*1424+464delinsCACA
ENST00000683587.1:n.2057+461_2057+464delinsCACA
ENST00000683681.1:c.*204+461_*204+464delinsCACA	ENSP00000508110.1:n.*204+461_*204+464delinsCACA
ENST00000683735.1:c.*1924+461_*1924+464delinsCACA	ENSP00000508336.1:n.*1924+461_*1924+464delinsCACA
ENST00000683853.1:c.*792_*795delinsCACA	ENSP00000506834.1:n.*792_*795delinsCACA
ENST00000683860.1:c.*646+461_*646+464delinsCACA	ENSP00000507179.1:n.*646+461_*646+464delinsCACA
ENST00000684125.1:c.*186+461_*186+464delinsCACA	ENSP00000507320.1:n.*186+461_*186+464delinsCACA
ENST00000684203.1:n.3975+461_3975+464delinsCACA
ENST00000684231.1:c.*936+461_*936+464delinsCACA	ENSP00000507748.1:n.*936+461_*936+464delinsCACA
ENST00000684263.1:c.*1150+461_*1150+464delinsCACA	ENSP00000508369.1:n.*1150+461_*1150+464delinsCACA
ENST00000684305.1:c.1974+461_1974+464delinsCACA	ENSP00000506819.1:n.1974+461_1974+464delinsCACA
ENST00000684602.1:c.*1192+461_*1192+464delinsCACA	ENSP00000507996.1:n.*1192+461_*1192+464delinsCACA
ENST00000684667.1:c.1857+461_1857+464delinsCACA	ENSP00000507003.1:n.1857+461_1857+464delinsCACA
ENST00000268097.10:c.1526+461_1526+464delinsCACA MANE Select	ENSP00000268097.6:n.1526+461_1526+464delinsCACA
ENST00000268097.9:c.1526+461_1526+464delinsCACA	ENSP00000268097.5:n.1526+461_1526+464delinsCACA
ENST00000379915.4:c.608+461_608+464delinsCACA	ENSP00000478716.1:n.608+461_608+464delinsCACA
ENST00000564677.5:n.318+461_318+464delinsCACA
ENST00000565873.1:n.437+461_437+464delinsCACA
ENST00000566304.5:c.1559+461_1559+464delinsCACA	ENSP00000455114.1:n.1559+461_1559+464delinsCACA
ENST00000567411.5:c.*1047+461_*1047+464delinsCACA	ENSP00000455545.1:n.*1047+461_*1047+464delinsCACA
NM_000520.4:c.1526+461_1526+464delinsCACA	NP_000511.2:n.1526+461_1526+464delinsCACA
NM_000520.5:c.1526+461_1526+464delinsCACA	NP_000511.2:n.1526+461_1526+464delinsCACA
NM_001318825.1:c.1559+461_1559+464delinsCACA	NP_001305754.1:n.1559+461_1559+464delinsCACA
NM_000520.6:c.1526+461_1526+464delinsCACA MANE Select	NP_000511.2:n.1526+461_1526+464delinsCACA
NM_001318825.2:c.1559+461_1559+464delinsCACA	NP_001305754.1:n.1559+461_1559+464delinsCACA