Canonical Allele Identifier: CA2186744123

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347431_72347433delinsCTA , CM000677.2:g.72347431_72347433delinsCTA	GRCh38
NC_000015.9:g.72639772_72639774delinsCTA , CM000677.1:g.72639772_72639774delinsCTA	GRCh37
NC_000015.8:g.70426826_70426828delinsCTA	NCBI36
NG_009017.1:g.33747_33749delinsTAG
NG_009017.2:g.33747_33749delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+615_1073+617delinsTAG	ENSP00000457521.2:n.1073+615_1073+617delinsTAG
ENST00000682061.1:c.*808+253_*808+255delinsTAG	ENSP00000508316.1:n.*808+253_*808+255delinsTAG
ENST00000682177.1:c.1189+253_1189+255delinsTAG	ENSP00000507409.1:n.1189+253_1189+255delinsTAG
ENST00000682461.1:c.1252+253_1252+255delinsTAG	ENSP00000507308.1:n.1252+253_1252+255delinsTAG
ENST00000682653.1:n.1466+253_1466+255delinsTAG
ENST00000682657.1:c.*483+615_*483+617delinsTAG	ENSP00000507753.1:n.*483+615_*483+617delinsTAG
ENST00000682721.1:c.*949+253_*949+255delinsTAG	ENSP00000507535.1:n.*949+253_*949+255delinsTAG
ENST00000682843.1:c.*971+615_*971+617delinsTAG	ENSP00000508173.1:n.*971+615_*971+617delinsTAG
ENST00000683003.1:c.*483+615_*483+617delinsTAG	ENSP00000507576.1:n.*483+615_*483+617delinsTAG
ENST00000683133.1:c.1330+253_1330+255delinsTAG	ENSP00000508108.1:n.1330+253_1330+255delinsTAG
ENST00000683228.1:n.1430_1432delinsTAG
ENST00000683243.1:c.*483+615_*483+617delinsTAG	ENSP00000507042.1:n.*483+615_*483+617delinsTAG
ENST00000683463.1:c.1073+615_1073+617delinsTAG	ENSP00000507986.1:n.1073+615_1073+617delinsTAG
ENST00000683548.1:n.1104+615_1104+617delinsTAG
ENST00000683579.1:c.*1044+253_*1044+255delinsTAG	ENSP00000506867.1:n.*1044+253_*1044+255delinsTAG
ENST00000683587.1:n.1177+253_1177+255delinsTAG
ENST00000683681.1:c.1146+253_1146+255delinsTAG	ENSP00000508110.1:n.1146+253_1146+255delinsTAG
ENST00000683735.1:c.*1044+253_*1044+255delinsTAG	ENSP00000508336.1:n.*1044+253_*1044+255delinsTAG
ENST00000683742.1:n.1230_1232delinsTAG
ENST00000683853.1:c.1073+615_1073+617delinsTAG	ENSP00000506834.1:n.1073+615_1073+617delinsTAG
ENST00000683860.1:c.1146+253_1146+255delinsTAG	ENSP00000507179.1:n.1146+253_1146+255delinsTAG
ENST00000683884.1:c.1146+253_1146+255delinsTAG	ENSP00000507004.1:n.1146+253_1146+255delinsTAG
ENST00000684041.1:c.1146+253_1146+255delinsTAG	ENSP00000508382.1:n.1146+253_1146+255delinsTAG
ENST00000684125.1:c.1073+615_1073+617delinsTAG	ENSP00000507320.1:n.1073+615_1073+617delinsTAG
ENST00000684203.1:n.2911+615_2911+617delinsTAG
ENST00000684231.1:c.*556+253_*556+255delinsTAG	ENSP00000507748.1:n.*556+253_*556+255delinsTAG
ENST00000684263.1:c.*86+253_*86+255delinsTAG	ENSP00000508369.1:n.*86+253_*86+255delinsTAG
ENST00000684305.1:c.1594+253_1594+255delinsTAG	ENSP00000506819.1:n.1594+253_1594+255delinsTAG
ENST00000684415.1:c.*13+598_*13+600delinsTAG	ENSP00000507227.1:n.*13+598_*13+600delinsTAG
ENST00000684520.1:c.1146+253_1146+255delinsTAG	ENSP00000506826.1:n.1146+253_1146+255delinsTAG
ENST00000684602.1:c.*812+253_*812+255delinsTAG	ENSP00000507996.1:n.*812+253_*812+255delinsTAG
ENST00000684667.1:c.1477+253_1477+255delinsTAG	ENSP00000507003.1:n.1477+253_1477+255delinsTAG
ENST00000268097.10:c.1146+253_1146+255delinsTAG MANE Select	ENSP00000268097.6:n.1146+253_1146+255delinsTAG
ENST00000268097.9:c.1146+253_1146+255delinsTAG	ENSP00000268097.5:n.1146+253_1146+255delinsTAG
ENST00000379915.4:c.413-1108_413-1106delinsTAG	ENSP00000478716.1:n.413-1108_413-1106delinsTAG
ENST00000563762.5:c.825+615_825+617delinsTAG	ENSP00000456346.1:n.825+615_825+617delinsTAG
ENST00000566304.5:c.1179+253_1179+255delinsTAG	ENSP00000455114.1:n.1179+253_1179+255delinsTAG
ENST00000566672.5:c.*556+253_*556+255delinsTAG	ENSP00000457037.1:n.*556+253_*556+255delinsTAG
ENST00000567027.5:c.945+615_945+617delinsTAG
ENST00000567159.5:c.1146+253_1146+255delinsTAG	ENSP00000456489.1:n.1146+253_1146+255delinsTAG
ENST00000567411.5:c.*667+253_*667+255delinsTAG	ENSP00000455545.1:n.*667+253_*667+255delinsTAG
ENST00000568777.5:n.6550+253_6550+255delinsTAG
ENST00000569410.5:c.1073+615_1073+617delinsTAG	ENSP00000457125.1:n.1073+615_1073+617delinsTAG
NM_000520.4:c.1146+253_1146+255delinsTAG	NP_000511.2:n.1146+253_1146+255delinsTAG
NM_000520.5:c.1146+253_1146+255delinsTAG	NP_000511.2:n.1146+253_1146+255delinsTAG
NM_001318825.1:c.1179+253_1179+255delinsTAG	NP_001305754.1:n.1179+253_1179+255delinsTAG
NR_134869.1:n.1574+615_1574+617delinsTAG
NM_000520.6:c.1146+253_1146+255delinsTAG MANE Select	NP_000511.2:n.1146+253_1146+255delinsTAG
NM_001318825.2:c.1179+253_1179+255delinsTAG	NP_001305754.1:n.1179+253_1179+255delinsTAG
NR_134869.2:n.1115+615_1115+617delinsTAG
NR_134869.3:n.1115+615_1115+617delinsTAG