Canonical Allele Identifier: CA2629341699

Gene: HEXA

Linked Data

• gnomAD v4: 15-72346778-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346778_72346779insG , CM000677.2:g.72346778_72346779insG	GRCh38
NC_000015.9:g.72639119_72639120insG , CM000677.1:g.72639119_72639120insG	GRCh37
NC_000015.8:g.70426173_70426174insG	NCBI36
NG_009017.1:g.34401_34402insC
NG_009017.2:g.34401_34402insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-454_1074-453insC	ENSP00000457521.2:n.1074-454_1074-453insC
ENST00000682061.1:c.*809-69_*809-68insC	ENSP00000508316.1:n.*809-69_*809-68insC
ENST00000682064.1:n.420_421insC
ENST00000682177.1:c.1190-69_1190-68insC	ENSP00000507409.1:n.1190-69_1190-68insC
ENST00000682235.1:n.417_418insC
ENST00000682461.1:c.1253-69_1253-68insC	ENSP00000507308.1:n.1253-69_1253-68insC
ENST00000682653.1:n.1467-69_1467-68insC
ENST00000682657.1:c.*484-454_*484-453insC	ENSP00000507753.1:n.*484-454_*484-453insC
ENST00000682721.1:c.*950-69_*950-68insC	ENSP00000507535.1:n.*950-69_*950-68insC
ENST00000682843.1:c.*972-454_*972-453insC	ENSP00000508173.1:n.*972-454_*972-453insC
ENST00000683003.1:c.*484-454_*484-453insC	ENSP00000507576.1:n.*484-454_*484-453insC
ENST00000683133.1:c.1331-69_1331-68insC	ENSP00000508108.1:n.1331-69_1331-68insC
ENST00000683243.1:c.*484-454_*484-453insC	ENSP00000507042.1:n.*484-454_*484-453insC
ENST00000683463.1:c.1074-69_1074-68insC	ENSP00000507986.1:n.1074-69_1074-68insC
ENST00000683548.1:n.1105-454_1105-453insC
ENST00000683579.1:c.*1045-69_*1045-68insC	ENSP00000506867.1:n.*1045-69_*1045-68insC
ENST00000683587.1:n.1178-454_1178-453insC
ENST00000683681.1:c.1147-69_1147-68insC	ENSP00000508110.1:n.1147-69_1147-68insC
ENST00000683735.1:c.*1045-454_*1045-453insC	ENSP00000508336.1:n.*1045-454_*1045-453insC
ENST00000683853.1:c.1074-69_1074-68insC	ENSP00000506834.1:n.1074-69_1074-68insC
ENST00000683860.1:c.1147-69_1147-68insC	ENSP00000507179.1:n.1147-69_1147-68insC
ENST00000683884.1:c.1147-454_1147-453insC	ENSP00000507004.1:n.1147-454_1147-453insC
ENST00000684041.1:c.1147-69_1147-68insC	ENSP00000508382.1:n.1147-69_1147-68insC
ENST00000684125.1:c.1074-454_1074-453insC	ENSP00000507320.1:n.1074-454_1074-453insC
ENST00000684203.1:n.2912-69_2912-68insC
ENST00000684231.1:c.*557-69_*557-68insC	ENSP00000507748.1:n.*557-69_*557-68insC
ENST00000684263.1:c.*87-69_*87-68insC	ENSP00000508369.1:n.*87-69_*87-68insC
ENST00000684305.1:c.1595-69_1595-68insC	ENSP00000506819.1:n.1595-69_1595-68insC
ENST00000684415.1:c.*14-69_*14-68insC	ENSP00000507227.1:n.*14-69_*14-68insC
ENST00000684520.1:c.1147-69_1147-68insC	ENSP00000506826.1:n.1147-69_1147-68insC
ENST00000684602.1:c.*813-69_*813-68insC	ENSP00000507996.1:n.*813-69_*813-68insC
ENST00000684667.1:c.1478-69_1478-68insC	ENSP00000507003.1:n.1478-69_1478-68insC
ENST00000268097.10:c.1147-69_1147-68insC MANE Select	ENSP00000268097.6:n.1147-69_1147-68insC
ENST00000268097.9:c.1147-69_1147-68insC	ENSP00000268097.5:n.1147-69_1147-68insC
ENST00000379915.4:c.413-454_413-453insC	ENSP00000478716.1:n.413-454_413-453insC
ENST00000563762.5:c.826-454_826-453insC	ENSP00000456346.1:n.826-454_826-453insC
ENST00000566304.5:c.1180-69_1180-68insC	ENSP00000455114.1:n.1180-69_1180-68insC
ENST00000566672.5:c.*557-69_*557-68insC	ENSP00000457037.1:n.*557-69_*557-68insC
ENST00000567027.5:c.946-454_946-453insC
ENST00000567159.5:c.1147-69_1147-68insC	ENSP00000456489.1:n.1147-69_1147-68insC
ENST00000567411.5:c.*668-69_*668-68insC	ENSP00000455545.1:n.*668-69_*668-68insC
ENST00000568777.5:n.6551-454_6551-453insC
ENST00000569410.5:c.1074-69_1074-68insC	ENSP00000457125.1:n.1074-69_1074-68insC
NM_000520.4:c.1147-69_1147-68insC	NP_000511.2:n.1147-69_1147-68insC
NM_000520.5:c.1147-69_1147-68insC	NP_000511.2:n.1147-69_1147-68insC
NM_001318825.1:c.1180-69_1180-68insC	NP_001305754.1:n.1180-69_1180-68insC
NR_134869.1:n.1575-454_1575-453insC
NM_000520.6:c.1147-69_1147-68insC MANE Select	NP_000511.2:n.1147-69_1147-68insC
NM_001318825.2:c.1180-69_1180-68insC	NP_001305754.1:n.1180-69_1180-68insC
NR_134869.2:n.1116-454_1116-453insC
NR_134869.3:n.1116-454_1116-453insC