Canonical Allele Identifier: CA2186743974

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347177_72347179delinsCTA , CM000677.2:g.72347177_72347179delinsCTA	GRCh38
NC_000015.9:g.72639518_72639520delinsCTA , CM000677.1:g.72639518_72639520delinsCTA	GRCh37
NC_000015.8:g.70426572_70426574delinsCTA	NCBI36
NG_009017.1:g.34001_34003delinsTAG
NG_009017.2:g.34001_34003delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-854_1074-852delinsTAG	ENSP00000457521.2:n.1074-854_1074-852delinsTAG
ENST00000682061.1:c.*809-469_*809-467delinsTAG	ENSP00000508316.1:n.*809-469_*809-467delinsTAG
ENST00000682064.1:n.20_22delinsTAG
ENST00000682177.1:c.1190-469_1190-467delinsTAG	ENSP00000507409.1:n.1190-469_1190-467delinsTAG
ENST00000682235.1:n.17_19delinsTAG
ENST00000682461.1:c.1253-469_1253-467delinsTAG	ENSP00000507308.1:n.1253-469_1253-467delinsTAG
ENST00000682653.1:n.1467-469_1467-467delinsTAG
ENST00000682657.1:c.*484-854_*484-852delinsTAG	ENSP00000507753.1:n.*484-854_*484-852delinsTAG
ENST00000682721.1:c.*950-469_*950-467delinsTAG	ENSP00000507535.1:n.*950-469_*950-467delinsTAG
ENST00000682843.1:c.*972-854_*972-852delinsTAG	ENSP00000508173.1:n.*972-854_*972-852delinsTAG
ENST00000683003.1:c.*484-854_*484-852delinsTAG	ENSP00000507576.1:n.*484-854_*484-852delinsTAG
ENST00000683133.1:c.1331-469_1331-467delinsTAG	ENSP00000508108.1:n.1331-469_1331-467delinsTAG
ENST00000683243.1:c.*484-854_*484-852delinsTAG	ENSP00000507042.1:n.*484-854_*484-852delinsTAG
ENST00000683463.1:c.1074-469_1074-467delinsTAG	ENSP00000507986.1:n.1074-469_1074-467delinsTAG
ENST00000683548.1:n.1105-854_1105-852delinsTAG
ENST00000683579.1:c.*1045-469_*1045-467delinsTAG	ENSP00000506867.1:n.*1045-469_*1045-467delinsTAG
ENST00000683587.1:n.1177+507_1177+509delinsTAG
ENST00000683681.1:c.1147-469_1147-467delinsTAG	ENSP00000508110.1:n.1147-469_1147-467delinsTAG
ENST00000683735.1:c.*1044+507_*1044+509delinsTAG	ENSP00000508336.1:n.*1044+507_*1044+509delinsTAG
ENST00000683853.1:c.1074-469_1074-467delinsTAG	ENSP00000506834.1:n.1074-469_1074-467delinsTAG
ENST00000683860.1:c.1147-469_1147-467delinsTAG	ENSP00000507179.1:n.1147-469_1147-467delinsTAG
ENST00000683884.1:c.1146+507_1146+509delinsTAG	ENSP00000507004.1:n.1146+507_1146+509delinsTAG
ENST00000684041.1:c.1147-469_1147-467delinsTAG	ENSP00000508382.1:n.1147-469_1147-467delinsTAG
ENST00000684125.1:c.1074-854_1074-852delinsTAG	ENSP00000507320.1:n.1074-854_1074-852delinsTAG
ENST00000684203.1:n.2912-469_2912-467delinsTAG
ENST00000684231.1:c.*557-469_*557-467delinsTAG	ENSP00000507748.1:n.*557-469_*557-467delinsTAG
ENST00000684263.1:c.*87-469_*87-467delinsTAG	ENSP00000508369.1:n.*87-469_*87-467delinsTAG
ENST00000684305.1:c.1595-469_1595-467delinsTAG	ENSP00000506819.1:n.1595-469_1595-467delinsTAG
ENST00000684415.1:c.*14-469_*14-467delinsTAG	ENSP00000507227.1:n.*14-469_*14-467delinsTAG
ENST00000684520.1:c.1147-469_1147-467delinsTAG	ENSP00000506826.1:n.1147-469_1147-467delinsTAG
ENST00000684602.1:c.*813-469_*813-467delinsTAG	ENSP00000507996.1:n.*813-469_*813-467delinsTAG
ENST00000684667.1:c.1478-469_1478-467delinsTAG	ENSP00000507003.1:n.1478-469_1478-467delinsTAG
ENST00000268097.10:c.1147-469_1147-467delinsTAG MANE Select	ENSP00000268097.6:n.1147-469_1147-467delinsTAG
ENST00000268097.9:c.1147-469_1147-467delinsTAG	ENSP00000268097.5:n.1147-469_1147-467delinsTAG
ENST00000379915.4:c.413-854_413-852delinsTAG	ENSP00000478716.1:n.413-854_413-852delinsTAG
ENST00000563762.5:c.826-854_826-852delinsTAG	ENSP00000456346.1:n.826-854_826-852delinsTAG
ENST00000566304.5:c.1180-469_1180-467delinsTAG	ENSP00000455114.1:n.1180-469_1180-467delinsTAG
ENST00000566672.5:c.*557-469_*557-467delinsTAG	ENSP00000457037.1:n.*557-469_*557-467delinsTAG
ENST00000567027.5:c.946-854_946-852delinsTAG
ENST00000567159.5:c.1147-469_1147-467delinsTAG	ENSP00000456489.1:n.1147-469_1147-467delinsTAG
ENST00000567411.5:c.*668-469_*668-467delinsTAG	ENSP00000455545.1:n.*668-469_*668-467delinsTAG
ENST00000568777.5:n.6550+507_6550+509delinsTAG
ENST00000569410.5:c.1074-469_1074-467delinsTAG	ENSP00000457125.1:n.1074-469_1074-467delinsTAG
NM_000520.4:c.1147-469_1147-467delinsTAG	NP_000511.2:n.1147-469_1147-467delinsTAG
NM_000520.5:c.1147-469_1147-467delinsTAG	NP_000511.2:n.1147-469_1147-467delinsTAG
NM_001318825.1:c.1180-469_1180-467delinsTAG	NP_001305754.1:n.1180-469_1180-467delinsTAG
NR_134869.1:n.1575-854_1575-852delinsTAG
NM_000520.6:c.1147-469_1147-467delinsTAG MANE Select	NP_000511.2:n.1147-469_1147-467delinsTAG
NM_001318825.2:c.1180-469_1180-467delinsTAG	NP_001305754.1:n.1180-469_1180-467delinsTAG
NR_134869.2:n.1116-854_1116-852delinsTAG
NR_134869.3:n.1116-854_1116-852delinsTAG