Canonical Allele Identifier: CA2186743585

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346337_72346338delinsCA , CM000677.2:g.72346337_72346338delinsCA	GRCh38
NC_000015.9:g.72638678_72638679delinsCA , CM000677.1:g.72638678_72638679delinsCA	GRCh37
NC_000015.8:g.70425732_70425733delinsCA	NCBI36
NG_009017.1:g.34842_34843delinsTG
NG_009017.2:g.34842_34843delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-13_1074-12delinsTG	ENSP00000457521.2:n.1074-13_1074-12delinsTG
ENST00000682061.1:c.*993-13_*993-12delinsTG	ENSP00000508316.1:n.*993-13_*993-12delinsTG
ENST00000682064.1:n.861_862delinsTG
ENST00000682177.1:c.1374-13_1374-12delinsTG	ENSP00000507409.1:n.1374-13_1374-12delinsTG
ENST00000682235.1:n.670-13_670-12delinsTG
ENST00000682461.1:c.1437-13_1437-12delinsTG	ENSP00000507308.1:n.1437-13_1437-12delinsTG
ENST00000682653.1:n.1651-13_1651-12delinsTG
ENST00000682657.1:c.*484-13_*484-12delinsTG	ENSP00000507753.1:n.*484-13_*484-12delinsTG
ENST00000682721.1:c.*1134-13_*1134-12delinsTG	ENSP00000507535.1:n.*1134-13_*1134-12delinsTG
ENST00000682843.1:c.*972-13_*972-12delinsTG	ENSP00000508173.1:n.*972-13_*972-12delinsTG
ENST00000683003.1:c.*484-13_*484-12delinsTG	ENSP00000507576.1:n.*484-13_*484-12delinsTG
ENST00000683133.1:c.1515-13_1515-12delinsTG	ENSP00000508108.1:n.1515-13_1515-12delinsTG
ENST00000683243.1:c.*484-13_*484-12delinsTG	ENSP00000507042.1:n.*484-13_*484-12delinsTG
ENST00000683463.1:c.*136-13_*136-12delinsTG	ENSP00000507986.1:n.*136-13_*136-12delinsTG
ENST00000683548.1:n.1105-13_1105-12delinsTG
ENST00000683579.1:c.*1229-13_*1229-12delinsTG	ENSP00000506867.1:n.*1229-13_*1229-12delinsTG
ENST00000683587.1:n.1178-13_1178-12delinsTG
ENST00000683681.1:c.1331-13_1331-12delinsTG	ENSP00000508110.1:n.1331-13_1331-12delinsTG
ENST00000683735.1:c.*1045-13_*1045-12delinsTG	ENSP00000508336.1:n.*1045-13_*1045-12delinsTG
ENST00000683853.1:c.*136-13_*136-12delinsTG	ENSP00000506834.1:n.*136-13_*136-12delinsTG
ENST00000683860.1:c.1331-13_1331-12delinsTG	ENSP00000507179.1:n.1331-13_1331-12delinsTG
ENST00000683884.1:c.1147-13_1147-12delinsTG	ENSP00000507004.1:n.1147-13_1147-12delinsTG
ENST00000684041.1:c.1331-13_1331-12delinsTG	ENSP00000508382.1:n.1331-13_1331-12delinsTG
ENST00000684125.1:c.1074-13_1074-12delinsTG	ENSP00000507320.1:n.1074-13_1074-12delinsTG
ENST00000684203.1:n.3096-13_3096-12delinsTG
ENST00000684231.1:c.*741-13_*741-12delinsTG	ENSP00000507748.1:n.*741-13_*741-12delinsTG
ENST00000684263.1:c.*271-13_*271-12delinsTG	ENSP00000508369.1:n.*271-13_*271-12delinsTG
ENST00000684305.1:c.1779-13_1779-12delinsTG	ENSP00000506819.1:n.1779-13_1779-12delinsTG
ENST00000684415.1:c.*198-13_*198-12delinsTG	ENSP00000507227.1:n.*198-13_*198-12delinsTG
ENST00000684520.1:c.1331-13_1331-12delinsTG	ENSP00000506826.1:n.1331-13_1331-12delinsTG
ENST00000684602.1:c.*997-13_*997-12delinsTG	ENSP00000507996.1:n.*997-13_*997-12delinsTG
ENST00000684667.1:c.1662-13_1662-12delinsTG	ENSP00000507003.1:n.1662-13_1662-12delinsTG
ENST00000268097.10:c.1331-13_1331-12delinsTG MANE Select	ENSP00000268097.6:n.1331-13_1331-12delinsTG
ENST00000268097.9:c.1331-13_1331-12delinsTG	ENSP00000268097.5:n.1331-13_1331-12delinsTG
ENST00000379915.4:c.413-13_413-12delinsTG	ENSP00000478716.1:n.413-13_413-12delinsTG
ENST00000563762.5:c.826-13_826-12delinsTG	ENSP00000456346.1:n.826-13_826-12delinsTG
ENST00000566304.5:c.1364-13_1364-12delinsTG	ENSP00000455114.1:n.1364-13_1364-12delinsTG
ENST00000566672.5:c.*741-13_*741-12delinsTG	ENSP00000457037.1:n.*741-13_*741-12delinsTG
ENST00000567027.5:c.946-13_946-12delinsTG
ENST00000567159.5:c.1331-13_1331-12delinsTG	ENSP00000456489.1:n.1331-13_1331-12delinsTG
ENST00000567411.5:c.*852-13_*852-12delinsTG	ENSP00000455545.1:n.*852-13_*852-12delinsTG
ENST00000568777.5:n.6551-13_6551-12delinsTG
ENST00000569410.5:c.*136-13_*136-12delinsTG	ENSP00000457125.1:n.*136-13_*136-12delinsTG
NM_000520.4:c.1331-13_1331-12delinsTG	NP_000511.2:n.1331-13_1331-12delinsTG
NM_000520.5:c.1331-13_1331-12delinsTG	NP_000511.2:n.1331-13_1331-12delinsTG
NM_001318825.1:c.1364-13_1364-12delinsTG	NP_001305754.1:n.1364-13_1364-12delinsTG
NR_134869.1:n.1575-13_1575-12delinsTG
NM_000520.6:c.1331-13_1331-12delinsTG MANE Select	NP_000511.2:n.1331-13_1331-12delinsTG
NM_001318825.2:c.1364-13_1364-12delinsTG	NP_001305754.1:n.1364-13_1364-12delinsTG
NR_134869.2:n.1116-13_1116-12delinsTG
NR_134869.3:n.1116-13_1116-12delinsTG