Canonical Allele Identifier: CA2186744381

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347988_72347992delinsAAGGG , CM000677.2:g.72347988_72347992delinsAAGGG	GRCh38
NC_000015.9:g.72640329_72640333delinsAAGGG , CM000677.1:g.72640329_72640333delinsAAGGG	GRCh37
NC_000015.8:g.70427383_70427387delinsAAGGG	NCBI36
NG_009017.1:g.33188_33192delinsCCCTT
NG_009017.2:g.33188_33192delinsCCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+56_1073+60delinsCCCTT	ENSP00000457521.2:n.1073+56_1073+60delinsCCCTT
ENST00000682061.1:c.*735+56_*735+60delinsCCCTT	ENSP00000508316.1:n.*735+56_*735+60delinsCCCTT
ENST00000682177.1:c.1116+56_1116+60delinsCCCTT	ENSP00000507409.1:n.1116+56_1116+60delinsCCCTT
ENST00000682461.1:c.1179+56_1179+60delinsCCCTT	ENSP00000507308.1:n.1179+56_1179+60delinsCCCTT
ENST00000682653.1:n.1160_1164delinsCCCTT
ENST00000682657.1:c.*483+56_*483+60delinsCCCTT	ENSP00000507753.1:n.*483+56_*483+60delinsCCCTT
ENST00000682721.1:c.*876+56_*876+60delinsCCCTT	ENSP00000507535.1:n.*876+56_*876+60delinsCCCTT
ENST00000682843.1:c.*971+56_*971+60delinsCCCTT	ENSP00000508173.1:n.*971+56_*971+60delinsCCCTT
ENST00000683003.1:c.*483+56_*483+60delinsCCCTT	ENSP00000507576.1:n.*483+56_*483+60delinsCCCTT
ENST00000683133.1:c.1257+56_1257+60delinsCCCTT	ENSP00000508108.1:n.1257+56_1257+60delinsCCCTT
ENST00000683228.1:n.1104+56_1104+60delinsCCCTT
ENST00000683243.1:c.*483+56_*483+60delinsCCCTT	ENSP00000507042.1:n.*483+56_*483+60delinsCCCTT
ENST00000683463.1:c.1073+56_1073+60delinsCCCTT	ENSP00000507986.1:n.1073+56_1073+60delinsCCCTT
ENST00000683548.1:n.1104+56_1104+60delinsCCCTT
ENST00000683579.1:c.*971+56_*971+60delinsCCCTT	ENSP00000506867.1:n.*971+56_*971+60delinsCCCTT
ENST00000683587.1:n.1104+56_1104+60delinsCCCTT
ENST00000683681.1:c.1073+56_1073+60delinsCCCTT	ENSP00000508110.1:n.1073+56_1073+60delinsCCCTT
ENST00000683735.1:c.*971+56_*971+60delinsCCCTT	ENSP00000508336.1:n.*971+56_*971+60delinsCCCTT
ENST00000683742.1:n.904+56_904+60delinsCCCTT
ENST00000683853.1:c.1073+56_1073+60delinsCCCTT	ENSP00000506834.1:n.1073+56_1073+60delinsCCCTT
ENST00000683860.1:c.1073+56_1073+60delinsCCCTT	ENSP00000507179.1:n.1073+56_1073+60delinsCCCTT
ENST00000683884.1:c.1073+56_1073+60delinsCCCTT	ENSP00000507004.1:n.1073+56_1073+60delinsCCCTT
ENST00000684041.1:c.1073+56_1073+60delinsCCCTT	ENSP00000508382.1:n.1073+56_1073+60delinsCCCTT
ENST00000684125.1:c.1073+56_1073+60delinsCCCTT	ENSP00000507320.1:n.1073+56_1073+60delinsCCCTT
ENST00000684203.1:n.2911+56_2911+60delinsCCCTT
ENST00000684231.1:c.*483+56_*483+60delinsCCCTT	ENSP00000507748.1:n.*483+56_*483+60delinsCCCTT
ENST00000684263.1:c.*13+39_*13+43delinsCCCTT	ENSP00000508369.1:n.*13+39_*13+43delinsCCCTT
ENST00000684305.1:c.1521+56_1521+60delinsCCCTT	ENSP00000506819.1:n.1521+56_1521+60delinsCCCTT
ENST00000684415.1:c.*13+39_*13+43delinsCCCTT	ENSP00000507227.1:n.*13+39_*13+43delinsCCCTT
ENST00000684520.1:c.1073+56_1073+60delinsCCCTT	ENSP00000506826.1:n.1073+56_1073+60delinsCCCTT
ENST00000684602.1:c.*739+56_*739+60delinsCCCTT	ENSP00000507996.1:n.*739+56_*739+60delinsCCCTT
ENST00000684667.1:c.1404+56_1404+60delinsCCCTT	ENSP00000507003.1:n.1404+56_1404+60delinsCCCTT
ENST00000268097.10:c.1073+56_1073+60delinsCCCTT MANE Select	ENSP00000268097.6:n.1073+56_1073+60delinsCCCTT
ENST00000268097.9:c.1073+56_1073+60delinsCCCTT	ENSP00000268097.5:n.1073+56_1073+60delinsCCCTT
ENST00000379915.4:c.413-1667_413-1663delinsCCCTT	ENSP00000478716.1:n.413-1667_413-1663delinsCCCTT
ENST00000563762.5:c.825+56_825+60delinsCCCTT	ENSP00000456346.1:n.825+56_825+60delinsCCCTT
ENST00000566304.5:c.1106+56_1106+60delinsCCCTT	ENSP00000455114.1:n.1106+56_1106+60delinsCCCTT
ENST00000566672.5:c.*483+56_*483+60delinsCCCTT	ENSP00000457037.1:n.*483+56_*483+60delinsCCCTT
ENST00000567027.5:c.945+56_945+60delinsCCCTT
ENST00000567159.5:c.1073+56_1073+60delinsCCCTT	ENSP00000456489.1:n.1073+56_1073+60delinsCCCTT
ENST00000567411.5:c.*594+56_*594+60delinsCCCTT	ENSP00000455545.1:n.*594+56_*594+60delinsCCCTT
ENST00000568777.5:n.6477+56_6477+60delinsCCCTT
ENST00000569410.5:c.1073+56_1073+60delinsCCCTT	ENSP00000457125.1:n.1073+56_1073+60delinsCCCTT
NM_000520.4:c.1073+56_1073+60delinsCCCTT	NP_000511.2:n.1073+56_1073+60delinsCCCTT
NM_000520.5:c.1073+56_1073+60delinsCCCTT	NP_000511.2:n.1073+56_1073+60delinsCCCTT
NM_001318825.1:c.1106+56_1106+60delinsCCCTT	NP_001305754.1:n.1106+56_1106+60delinsCCCTT
NR_134869.1:n.1574+56_1574+60delinsCCCTT
NM_000520.6:c.1073+56_1073+60delinsCCCTT MANE Select	NP_000511.2:n.1073+56_1073+60delinsCCCTT
NM_001318825.2:c.1106+56_1106+60delinsCCCTT	NP_001305754.1:n.1106+56_1106+60delinsCCCTT
NR_134869.2:n.1115+56_1115+60delinsCCCTT
NR_134869.3:n.1115+56_1115+60delinsCCCTT