Canonical Allele Identifier: CA2186743776

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346774_72346776delinsTAC , CM000677.2:g.72346774_72346776delinsTAC	GRCh38
NC_000015.9:g.72639115_72639117delinsTAC , CM000677.1:g.72639115_72639117delinsTAC	GRCh37
NC_000015.8:g.70426169_70426171delinsTAC	NCBI36
NG_009017.1:g.34404_34406delinsGTA
NG_009017.2:g.34404_34406delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-451_1074-449delinsGTA	ENSP00000457521.2:n.1074-451_1074-449delinsGTA
ENST00000682061.1:c.*809-66_*809-64delinsGTA	ENSP00000508316.1:n.*809-66_*809-64delinsGTA
ENST00000682064.1:n.423_425delinsGTA
ENST00000682177.1:c.1190-66_1190-64delinsGTA	ENSP00000507409.1:n.1190-66_1190-64delinsGTA
ENST00000682235.1:n.420_422delinsGTA
ENST00000682461.1:c.1253-66_1253-64delinsGTA	ENSP00000507308.1:n.1253-66_1253-64delinsGTA
ENST00000682653.1:n.1467-66_1467-64delinsGTA
ENST00000682657.1:c.*484-451_*484-449delinsGTA	ENSP00000507753.1:n.*484-451_*484-449delinsGTA
ENST00000682721.1:c.*950-66_*950-64delinsGTA	ENSP00000507535.1:n.*950-66_*950-64delinsGTA
ENST00000682843.1:c.*972-451_*972-449delinsGTA	ENSP00000508173.1:n.*972-451_*972-449delinsGTA
ENST00000683003.1:c.*484-451_*484-449delinsGTA	ENSP00000507576.1:n.*484-451_*484-449delinsGTA
ENST00000683133.1:c.1331-66_1331-64delinsGTA	ENSP00000508108.1:n.1331-66_1331-64delinsGTA
ENST00000683243.1:c.*484-451_*484-449delinsGTA	ENSP00000507042.1:n.*484-451_*484-449delinsGTA
ENST00000683463.1:c.1074-66_1074-64delinsGTA	ENSP00000507986.1:n.1074-66_1074-64delinsGTA
ENST00000683548.1:n.1105-451_1105-449delinsGTA
ENST00000683579.1:c.*1045-66_*1045-64delinsGTA	ENSP00000506867.1:n.*1045-66_*1045-64delinsGTA
ENST00000683587.1:n.1178-451_1178-449delinsGTA
ENST00000683681.1:c.1147-66_1147-64delinsGTA	ENSP00000508110.1:n.1147-66_1147-64delinsGTA
ENST00000683735.1:c.*1045-451_*1045-449delinsGTA	ENSP00000508336.1:n.*1045-451_*1045-449delinsGTA
ENST00000683853.1:c.1074-66_1074-64delinsGTA	ENSP00000506834.1:n.1074-66_1074-64delinsGTA
ENST00000683860.1:c.1147-66_1147-64delinsGTA	ENSP00000507179.1:n.1147-66_1147-64delinsGTA
ENST00000683884.1:c.1147-451_1147-449delinsGTA	ENSP00000507004.1:n.1147-451_1147-449delinsGTA
ENST00000684041.1:c.1147-66_1147-64delinsGTA	ENSP00000508382.1:n.1147-66_1147-64delinsGTA
ENST00000684125.1:c.1074-451_1074-449delinsGTA	ENSP00000507320.1:n.1074-451_1074-449delinsGTA
ENST00000684203.1:n.2912-66_2912-64delinsGTA
ENST00000684231.1:c.*557-66_*557-64delinsGTA	ENSP00000507748.1:n.*557-66_*557-64delinsGTA
ENST00000684263.1:c.*87-66_*87-64delinsGTA	ENSP00000508369.1:n.*87-66_*87-64delinsGTA
ENST00000684305.1:c.1595-66_1595-64delinsGTA	ENSP00000506819.1:n.1595-66_1595-64delinsGTA
ENST00000684415.1:c.*14-66_*14-64delinsGTA	ENSP00000507227.1:n.*14-66_*14-64delinsGTA
ENST00000684520.1:c.1147-66_1147-64delinsGTA	ENSP00000506826.1:n.1147-66_1147-64delinsGTA
ENST00000684602.1:c.*813-66_*813-64delinsGTA	ENSP00000507996.1:n.*813-66_*813-64delinsGTA
ENST00000684667.1:c.1478-66_1478-64delinsGTA	ENSP00000507003.1:n.1478-66_1478-64delinsGTA
ENST00000268097.10:c.1147-66_1147-64delinsGTA MANE Select	ENSP00000268097.6:n.1147-66_1147-64delinsGTA
ENST00000268097.9:c.1147-66_1147-64delinsGTA	ENSP00000268097.5:n.1147-66_1147-64delinsGTA
ENST00000379915.4:c.413-451_413-449delinsGTA	ENSP00000478716.1:n.413-451_413-449delinsGTA
ENST00000563762.5:c.826-451_826-449delinsGTA	ENSP00000456346.1:n.826-451_826-449delinsGTA
ENST00000566304.5:c.1180-66_1180-64delinsGTA	ENSP00000455114.1:n.1180-66_1180-64delinsGTA
ENST00000566672.5:c.*557-66_*557-64delinsGTA	ENSP00000457037.1:n.*557-66_*557-64delinsGTA
ENST00000567027.5:c.946-451_946-449delinsGTA
ENST00000567159.5:c.1147-66_1147-64delinsGTA	ENSP00000456489.1:n.1147-66_1147-64delinsGTA
ENST00000567411.5:c.*668-66_*668-64delinsGTA	ENSP00000455545.1:n.*668-66_*668-64delinsGTA
ENST00000568777.5:n.6551-451_6551-449delinsGTA
ENST00000569410.5:c.1074-66_1074-64delinsGTA	ENSP00000457125.1:n.1074-66_1074-64delinsGTA
NM_000520.4:c.1147-66_1147-64delinsGTA	NP_000511.2:n.1147-66_1147-64delinsGTA
NM_000520.5:c.1147-66_1147-64delinsGTA	NP_000511.2:n.1147-66_1147-64delinsGTA
NM_001318825.1:c.1180-66_1180-64delinsGTA	NP_001305754.1:n.1180-66_1180-64delinsGTA
NR_134869.1:n.1575-451_1575-449delinsGTA
NM_000520.6:c.1147-66_1147-64delinsGTA MANE Select	NP_000511.2:n.1147-66_1147-64delinsGTA
NM_001318825.2:c.1180-66_1180-64delinsGTA	NP_001305754.1:n.1180-66_1180-64delinsGTA
NR_134869.2:n.1116-451_1116-449delinsGTA
NR_134869.3:n.1116-451_1116-449delinsGTA