Canonical Allele Identifier: CA2186743948

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347128_72347130delinsCCA , CM000677.2:g.72347128_72347130delinsCCA	GRCh38
NC_000015.9:g.72639469_72639471delinsCCA , CM000677.1:g.72639469_72639471delinsCCA	GRCh37
NC_000015.8:g.70426523_70426525delinsCCA	NCBI36
NG_009017.1:g.34050_34052delinsTGG
NG_009017.2:g.34050_34052delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-805_1074-803delinsTGG	ENSP00000457521.2:n.1074-805_1074-803delinsTGG
ENST00000682061.1:c.*809-420_*809-418delinsTGG	ENSP00000508316.1:n.*809-420_*809-418delinsTGG
ENST00000682064.1:n.69_71delinsTGG
ENST00000682177.1:c.1190-420_1190-418delinsTGG	ENSP00000507409.1:n.1190-420_1190-418delinsTGG
ENST00000682235.1:n.66_68delinsTGG
ENST00000682461.1:c.1253-420_1253-418delinsTGG	ENSP00000507308.1:n.1253-420_1253-418delinsTGG
ENST00000682653.1:n.1467-420_1467-418delinsTGG
ENST00000682657.1:c.*484-805_*484-803delinsTGG	ENSP00000507753.1:n.*484-805_*484-803delinsTGG
ENST00000682721.1:c.*950-420_*950-418delinsTGG	ENSP00000507535.1:n.*950-420_*950-418delinsTGG
ENST00000682843.1:c.*972-805_*972-803delinsTGG	ENSP00000508173.1:n.*972-805_*972-803delinsTGG
ENST00000683003.1:c.*484-805_*484-803delinsTGG	ENSP00000507576.1:n.*484-805_*484-803delinsTGG
ENST00000683133.1:c.1331-420_1331-418delinsTGG	ENSP00000508108.1:n.1331-420_1331-418delinsTGG
ENST00000683243.1:c.*484-805_*484-803delinsTGG	ENSP00000507042.1:n.*484-805_*484-803delinsTGG
ENST00000683463.1:c.1074-420_1074-418delinsTGG	ENSP00000507986.1:n.1074-420_1074-418delinsTGG
ENST00000683548.1:n.1105-805_1105-803delinsTGG
ENST00000683579.1:c.*1045-420_*1045-418delinsTGG	ENSP00000506867.1:n.*1045-420_*1045-418delinsTGG
ENST00000683587.1:n.1177+556_1177+558delinsTGG
ENST00000683681.1:c.1147-420_1147-418delinsTGG	ENSP00000508110.1:n.1147-420_1147-418delinsTGG
ENST00000683735.1:c.*1044+556_*1044+558delinsTGG	ENSP00000508336.1:n.*1044+556_*1044+558delinsTGG
ENST00000683853.1:c.1074-420_1074-418delinsTGG	ENSP00000506834.1:n.1074-420_1074-418delinsTGG
ENST00000683860.1:c.1147-420_1147-418delinsTGG	ENSP00000507179.1:n.1147-420_1147-418delinsTGG
ENST00000683884.1:c.1146+556_1146+558delinsTGG	ENSP00000507004.1:n.1146+556_1146+558delinsTGG
ENST00000684041.1:c.1147-420_1147-418delinsTGG	ENSP00000508382.1:n.1147-420_1147-418delinsTGG
ENST00000684125.1:c.1074-805_1074-803delinsTGG	ENSP00000507320.1:n.1074-805_1074-803delinsTGG
ENST00000684203.1:n.2912-420_2912-418delinsTGG
ENST00000684231.1:c.*557-420_*557-418delinsTGG	ENSP00000507748.1:n.*557-420_*557-418delinsTGG
ENST00000684263.1:c.*87-420_*87-418delinsTGG	ENSP00000508369.1:n.*87-420_*87-418delinsTGG
ENST00000684305.1:c.1595-420_1595-418delinsTGG	ENSP00000506819.1:n.1595-420_1595-418delinsTGG
ENST00000684415.1:c.*14-420_*14-418delinsTGG	ENSP00000507227.1:n.*14-420_*14-418delinsTGG
ENST00000684520.1:c.1147-420_1147-418delinsTGG	ENSP00000506826.1:n.1147-420_1147-418delinsTGG
ENST00000684602.1:c.*813-420_*813-418delinsTGG	ENSP00000507996.1:n.*813-420_*813-418delinsTGG
ENST00000684667.1:c.1478-420_1478-418delinsTGG	ENSP00000507003.1:n.1478-420_1478-418delinsTGG
ENST00000268097.10:c.1147-420_1147-418delinsTGG MANE Select	ENSP00000268097.6:n.1147-420_1147-418delinsTGG
ENST00000268097.9:c.1147-420_1147-418delinsTGG	ENSP00000268097.5:n.1147-420_1147-418delinsTGG
ENST00000379915.4:c.413-805_413-803delinsTGG	ENSP00000478716.1:n.413-805_413-803delinsTGG
ENST00000563762.5:c.826-805_826-803delinsTGG	ENSP00000456346.1:n.826-805_826-803delinsTGG
ENST00000566304.5:c.1180-420_1180-418delinsTGG	ENSP00000455114.1:n.1180-420_1180-418delinsTGG
ENST00000566672.5:c.*557-420_*557-418delinsTGG	ENSP00000457037.1:n.*557-420_*557-418delinsTGG
ENST00000567027.5:c.946-805_946-803delinsTGG
ENST00000567159.5:c.1147-420_1147-418delinsTGG	ENSP00000456489.1:n.1147-420_1147-418delinsTGG
ENST00000567411.5:c.*668-420_*668-418delinsTGG	ENSP00000455545.1:n.*668-420_*668-418delinsTGG
ENST00000568777.5:n.6550+556_6550+558delinsTGG
ENST00000569410.5:c.1074-420_1074-418delinsTGG	ENSP00000457125.1:n.1074-420_1074-418delinsTGG
NM_000520.4:c.1147-420_1147-418delinsTGG	NP_000511.2:n.1147-420_1147-418delinsTGG
NM_000520.5:c.1147-420_1147-418delinsTGG	NP_000511.2:n.1147-420_1147-418delinsTGG
NM_001318825.1:c.1180-420_1180-418delinsTGG	NP_001305754.1:n.1180-420_1180-418delinsTGG
NR_134869.1:n.1575-805_1575-803delinsTGG
NM_000520.6:c.1147-420_1147-418delinsTGG MANE Select	NP_000511.2:n.1147-420_1147-418delinsTGG
NM_001318825.2:c.1180-420_1180-418delinsTGG	NP_001305754.1:n.1180-420_1180-418delinsTGG
NR_134869.2:n.1116-805_1116-803delinsTGG
NR_134869.3:n.1116-805_1116-803delinsTGG