Canonical Allele Identifier: CA2186744012

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347222_72347241delinsTAGTGAGGGAAGATAGAAAC , CM000677.2:g.72347222_72347241delinsTAGTGAGGGAAGATAGAAAC	GRCh38
NC_000015.9:g.72639563_72639582delinsTAGTGAGGGAAGATAGAAAC , CM000677.1:g.72639563_72639582delinsTAGTGAGGGAAGATAGAAAC	GRCh37
NC_000015.8:g.70426617_70426636delinsTAGTGAGGGAAGATAGAAAC	NCBI36
NG_009017.1:g.33939_33958delinsGTTTCTATCTTCCCTCACTA
NG_009017.2:g.33939_33958delinsGTTTCTATCTTCCCTCACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+807_1073+826delinsGTTTCTATCTTCCCTCACTA	ENSP00000457521.2:n.1073+807_1073+826delinsGTTTCTATCTTCCCTCAC...
ENST00000682061.1:c.*808+445_*808+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000508316.1:n.*808+445_*808+464delinsGTTTCTATCTTCCCTCAC...
ENST00000682177.1:c.1189+445_1189+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000507409.1:n.1189+445_1189+464delinsGTTTCTATCTTCCCTCAC...
ENST00000682461.1:c.1252+445_1252+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000507308.1:n.1252+445_1252+464delinsGTTTCTATCTTCCCTCAC...
ENST00000682653.1:n.1466+445_1466+464delinsGTTTCTATCTTCCCTCACTA
ENST00000682657.1:c.*483+807_*483+826delinsGTTTCTATCTTCCCTCACTA	ENSP00000507753.1:n.*483+807_*483+826delinsGTTTCTATCTTCCCTCAC...
ENST00000682721.1:c.*949+445_*949+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000507535.1:n.*949+445_*949+464delinsGTTTCTATCTTCCCTCAC...
ENST00000682843.1:c.*971+807_*971+826delinsGTTTCTATCTTCCCTCACTA	ENSP00000508173.1:n.*971+807_*971+826delinsGTTTCTATCTTCCCTCAC...
ENST00000683003.1:c.*483+807_*483+826delinsGTTTCTATCTTCCCTCACTA	ENSP00000507576.1:n.*483+807_*483+826delinsGTTTCTATCTTCCCTCAC...
ENST00000683133.1:c.1330+445_1330+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000508108.1:n.1330+445_1330+464delinsGTTTCTATCTTCCCTCAC...
ENST00000683243.1:c.*483+807_*483+826delinsGTTTCTATCTTCCCTCACTA	ENSP00000507042.1:n.*483+807_*483+826delinsGTTTCTATCTTCCCTCAC...
ENST00000683463.1:c.1074-531_1074-512delinsGTTTCTATCTTCCCTCACTA	ENSP00000507986.1:n.1074-531_1074-512delinsGTTTCTATCTTCCCTCAC...
ENST00000683548.1:n.1104+807_1104+826delinsGTTTCTATCTTCCCTCACTA
ENST00000683579.1:c.*1044+445_*1044+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000506867.1:n.*1044+445_*1044+464delinsGTTTCTATCTTCCCTC...
ENST00000683587.1:n.1177+445_1177+464delinsGTTTCTATCTTCCCTCACTA
ENST00000683681.1:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000508110.1:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCAC...
ENST00000683735.1:c.*1044+445_*1044+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000508336.1:n.*1044+445_*1044+464delinsGTTTCTATCTTCCCTC...
ENST00000683742.1:n.1422_1441delinsGTTTCTATCTTCCCTCACTA
ENST00000683853.1:c.1074-531_1074-512delinsGTTTCTATCTTCCCTCACTA	ENSP00000506834.1:n.1074-531_1074-512delinsGTTTCTATCTTCCCTCAC...
ENST00000683860.1:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000507179.1:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCAC...
ENST00000683884.1:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000507004.1:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCAC...
ENST00000684041.1:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000508382.1:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCAC...
ENST00000684125.1:c.1073+807_1073+826delinsGTTTCTATCTTCCCTCACTA	ENSP00000507320.1:n.1073+807_1073+826delinsGTTTCTATCTTCCCTCAC...
ENST00000684203.1:n.2912-531_2912-512delinsGTTTCTATCTTCCCTCACTA
ENST00000684231.1:c.*556+445_*556+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000507748.1:n.*556+445_*556+464delinsGTTTCTATCTTCCCTCAC...
ENST00000684263.1:c.*86+445_*86+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000508369.1:n.*86+445_*86+464delinsGTTTCTATCTTCCCTCACTA...
ENST00000684305.1:c.1594+445_1594+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000506819.1:n.1594+445_1594+464delinsGTTTCTATCTTCCCTCAC...
ENST00000684415.1:c.*14-531_*14-512delinsGTTTCTATCTTCCCTCACTA	ENSP00000507227.1:n.*14-531_*14-512delinsGTTTCTATCTTCCCTCACTA...
ENST00000684520.1:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000506826.1:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCAC...
ENST00000684602.1:c.*812+445_*812+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000507996.1:n.*812+445_*812+464delinsGTTTCTATCTTCCCTCAC...
ENST00000684667.1:c.1477+445_1477+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000507003.1:n.1477+445_1477+464delinsGTTTCTATCTTCCCTCAC...
ENST00000268097.10:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA MANE Select	ENSP00000268097.6:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCAC...
ENST00000268097.9:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000268097.5:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCAC...
ENST00000379915.4:c.413-916_413-897delinsGTTTCTATCTTCCCTCACTA	ENSP00000478716.1:n.413-916_413-897delinsGTTTCTATCTTCCCTCACTA...
ENST00000563762.5:c.825+807_825+826delinsGTTTCTATCTTCCCTCACTA	ENSP00000456346.1:n.825+807_825+826delinsGTTTCTATCTTCCCTCACTA...
ENST00000566304.5:c.1179+445_1179+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000455114.1:n.1179+445_1179+464delinsGTTTCTATCTTCCCTCAC...
ENST00000566672.5:c.*556+445_*556+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000457037.1:n.*556+445_*556+464delinsGTTTCTATCTTCCCTCAC...
ENST00000567027.5:c.945+807_945+826delinsGTTTCTATCTTCCCTCACTA
ENST00000567159.5:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000456489.1:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCAC...
ENST00000567411.5:c.*667+445_*667+464delinsGTTTCTATCTTCCCTCACTA	ENSP00000455545.1:n.*667+445_*667+464delinsGTTTCTATCTTCCCTCAC...
ENST00000568777.5:n.6550+445_6550+464delinsGTTTCTATCTTCCCTCACTA
ENST00000569410.5:c.1074-531_1074-512delinsGTTTCTATCTTCCCTCACTA	ENSP00000457125.1:n.1074-531_1074-512delinsGTTTCTATCTTCCCTCAC...
NM_000520.4:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA	NP_000511.2:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA
NM_000520.5:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA	NP_000511.2:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA
NM_001318825.1:c.1179+445_1179+464delinsGTTTCTATCTTCCCTCACTA	NP_001305754.1:n.1179+445_1179+464delinsGTTTCTATCTTCCCTCACTA
NR_134869.1:n.1574+807_1574+826delinsGTTTCTATCTTCCCTCACTA
NM_000520.6:c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA MANE Select	NP_000511.2:n.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA
NM_001318825.2:c.1179+445_1179+464delinsGTTTCTATCTTCCCTCACTA	NP_001305754.1:n.1179+445_1179+464delinsGTTTCTATCTTCCCTCACTA
NR_134869.2:n.1115+807_1115+826delinsGTTTCTATCTTCCCTCACTA
NR_134869.3:n.1115+807_1115+826delinsGTTTCTATCTTCCCTCACTA