Canonical Allele Identifier: CA2186743037

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72344990_72344991delinsAG , CM000677.2:g.72344990_72344991delinsAG	GRCh38
NC_000015.9:g.72637331_72637332delinsAG , CM000677.1:g.72637331_72637332delinsAG	GRCh37
NC_000015.8:g.70424385_70424386delinsAG	NCBI36
NG_009017.1:g.36189_36190delinsCT
NG_009017.2:g.36189_36190delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.1753+455_1753+456delinsCT
ENST00000682235.1:n.1549+455_1549+456delinsCT
ENST00000682461.1:c.1632+455_1632+456delinsCT	ENSP00000507308.1:n.1632+455_1632+456delinsCT
ENST00000682653.1:n.2985_2986delinsCT
ENST00000682721.1:c.*1329+455_*1329+456delinsCT	ENSP00000507535.1:n.*1329+455_*1329+456delinsCT
ENST00000682843.1:c.*1167+455_*1167+456delinsCT	ENSP00000508173.1:n.*1167+455_*1167+456delinsCT
ENST00000683133.1:c.1710+455_1710+456delinsCT	ENSP00000508108.1:n.1710+455_1710+456delinsCT
ENST00000683243.1:c.*679+455_*679+456delinsCT	ENSP00000507042.1:n.*679+455_*679+456delinsCT
ENST00000683463.1:c.*1015+455_*1015+456delinsCT	ENSP00000507986.1:n.*1015+455_*1015+456delinsCT
ENST00000683548.1:n.1984+455_1984+456delinsCT
ENST00000683579.1:c.*1424+455_*1424+456delinsCT	ENSP00000506867.1:n.*1424+455_*1424+456delinsCT
ENST00000683587.1:n.2057+455_2057+456delinsCT
ENST00000683681.1:c.*204+455_*204+456delinsCT	ENSP00000508110.1:n.*204+455_*204+456delinsCT
ENST00000683735.1:c.*1924+455_*1924+456delinsCT	ENSP00000508336.1:n.*1924+455_*1924+456delinsCT
ENST00000683853.1:c.*786_*787delinsCT	ENSP00000506834.1:n.*786_*787delinsCT
ENST00000683860.1:c.*646+455_*646+456delinsCT	ENSP00000507179.1:n.*646+455_*646+456delinsCT
ENST00000684125.1:c.*186+455_*186+456delinsCT	ENSP00000507320.1:n.*186+455_*186+456delinsCT
ENST00000684203.1:n.3975+455_3975+456delinsCT
ENST00000684231.1:c.*936+455_*936+456delinsCT	ENSP00000507748.1:n.*936+455_*936+456delinsCT
ENST00000684263.1:c.*1150+455_*1150+456delinsCT	ENSP00000508369.1:n.*1150+455_*1150+456delinsCT
ENST00000684305.1:c.1974+455_1974+456delinsCT	ENSP00000506819.1:n.1974+455_1974+456delinsCT
ENST00000684602.1:c.*1192+455_*1192+456delinsCT	ENSP00000507996.1:n.*1192+455_*1192+456delinsCT
ENST00000684667.1:c.1857+455_1857+456delinsCT	ENSP00000507003.1:n.1857+455_1857+456delinsCT
ENST00000268097.10:c.1526+455_1526+456delinsCT MANE Select	ENSP00000268097.6:n.1526+455_1526+456delinsCT
ENST00000268097.9:c.1526+455_1526+456delinsCT	ENSP00000268097.5:n.1526+455_1526+456delinsCT
ENST00000379915.4:c.608+455_608+456delinsCT	ENSP00000478716.1:n.608+455_608+456delinsCT
ENST00000564677.5:n.318+455_318+456delinsCT
ENST00000565873.1:n.437+455_437+456delinsCT
ENST00000566304.5:c.1559+455_1559+456delinsCT	ENSP00000455114.1:n.1559+455_1559+456delinsCT
ENST00000567411.5:c.*1047+455_*1047+456delinsCT	ENSP00000455545.1:n.*1047+455_*1047+456delinsCT
NM_000520.4:c.1526+455_1526+456delinsCT	NP_000511.2:n.1526+455_1526+456delinsCT
NM_000520.5:c.1526+455_1526+456delinsCT	NP_000511.2:n.1526+455_1526+456delinsCT
NM_001318825.1:c.1559+455_1559+456delinsCT	NP_001305754.1:n.1559+455_1559+456delinsCT
NM_000520.6:c.1526+455_1526+456delinsCT MANE Select	NP_000511.2:n.1526+455_1526+456delinsCT
NM_001318825.2:c.1559+455_1559+456delinsCT	NP_001305754.1:n.1559+455_1559+456delinsCT