Canonical Allele Identifier: CA2186743761

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346739_72346741delinsGAC , CM000677.2:g.72346739_72346741delinsGAC	GRCh38
NC_000015.9:g.72639080_72639082delinsGAC , CM000677.1:g.72639080_72639082delinsGAC	GRCh37
NC_000015.8:g.70426134_70426136delinsGAC	NCBI36
NG_009017.1:g.34439_34441delinsGTC
NG_009017.2:g.34439_34441delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-416_1074-414delinsGTC	ENSP00000457521.2:n.1074-416_1074-414delinsGTC
ENST00000682061.1:c.*809-31_*809-29delinsGTC	ENSP00000508316.1:n.*809-31_*809-29delinsGTC
ENST00000682064.1:n.458_460delinsGTC
ENST00000682177.1:c.1190-31_1190-29delinsGTC	ENSP00000507409.1:n.1190-31_1190-29delinsGTC
ENST00000682235.1:n.455_457delinsGTC
ENST00000682461.1:c.1253-31_1253-29delinsGTC	ENSP00000507308.1:n.1253-31_1253-29delinsGTC
ENST00000682653.1:n.1467-31_1467-29delinsGTC
ENST00000682657.1:c.*484-416_*484-414delinsGTC	ENSP00000507753.1:n.*484-416_*484-414delinsGTC
ENST00000682721.1:c.*950-31_*950-29delinsGTC	ENSP00000507535.1:n.*950-31_*950-29delinsGTC
ENST00000682843.1:c.*972-416_*972-414delinsGTC	ENSP00000508173.1:n.*972-416_*972-414delinsGTC
ENST00000683003.1:c.*484-416_*484-414delinsGTC	ENSP00000507576.1:n.*484-416_*484-414delinsGTC
ENST00000683133.1:c.1331-31_1331-29delinsGTC	ENSP00000508108.1:n.1331-31_1331-29delinsGTC
ENST00000683243.1:c.*484-416_*484-414delinsGTC	ENSP00000507042.1:n.*484-416_*484-414delinsGTC
ENST00000683463.1:c.1074-31_1074-29delinsGTC	ENSP00000507986.1:n.1074-31_1074-29delinsGTC
ENST00000683548.1:n.1105-416_1105-414delinsGTC
ENST00000683579.1:c.*1045-31_*1045-29delinsGTC	ENSP00000506867.1:n.*1045-31_*1045-29delinsGTC
ENST00000683587.1:n.1178-416_1178-414delinsGTC
ENST00000683681.1:c.1147-31_1147-29delinsGTC	ENSP00000508110.1:n.1147-31_1147-29delinsGTC
ENST00000683735.1:c.*1045-416_*1045-414delinsGTC	ENSP00000508336.1:n.*1045-416_*1045-414delinsGTC
ENST00000683853.1:c.1074-31_1074-29delinsGTC	ENSP00000506834.1:n.1074-31_1074-29delinsGTC
ENST00000683860.1:c.1147-31_1147-29delinsGTC	ENSP00000507179.1:n.1147-31_1147-29delinsGTC
ENST00000683884.1:c.1147-416_1147-414delinsGTC	ENSP00000507004.1:n.1147-416_1147-414delinsGTC
ENST00000684041.1:c.1147-31_1147-29delinsGTC	ENSP00000508382.1:n.1147-31_1147-29delinsGTC
ENST00000684125.1:c.1074-416_1074-414delinsGTC	ENSP00000507320.1:n.1074-416_1074-414delinsGTC
ENST00000684203.1:n.2912-31_2912-29delinsGTC
ENST00000684231.1:c.*557-31_*557-29delinsGTC	ENSP00000507748.1:n.*557-31_*557-29delinsGTC
ENST00000684263.1:c.*87-31_*87-29delinsGTC	ENSP00000508369.1:n.*87-31_*87-29delinsGTC
ENST00000684305.1:c.1595-31_1595-29delinsGTC	ENSP00000506819.1:n.1595-31_1595-29delinsGTC
ENST00000684415.1:c.*14-31_*14-29delinsGTC	ENSP00000507227.1:n.*14-31_*14-29delinsGTC
ENST00000684520.1:c.1147-31_1147-29delinsGTC	ENSP00000506826.1:n.1147-31_1147-29delinsGTC
ENST00000684602.1:c.*813-31_*813-29delinsGTC	ENSP00000507996.1:n.*813-31_*813-29delinsGTC
ENST00000684667.1:c.1478-31_1478-29delinsGTC	ENSP00000507003.1:n.1478-31_1478-29delinsGTC
ENST00000268097.10:c.1147-31_1147-29delinsGTC MANE Select	ENSP00000268097.6:n.1147-31_1147-29delinsGTC
ENST00000268097.9:c.1147-31_1147-29delinsGTC	ENSP00000268097.5:n.1147-31_1147-29delinsGTC
ENST00000379915.4:c.413-416_413-414delinsGTC	ENSP00000478716.1:n.413-416_413-414delinsGTC
ENST00000563762.5:c.826-416_826-414delinsGTC	ENSP00000456346.1:n.826-416_826-414delinsGTC
ENST00000566304.5:c.1180-31_1180-29delinsGTC	ENSP00000455114.1:n.1180-31_1180-29delinsGTC
ENST00000566672.5:c.*557-31_*557-29delinsGTC	ENSP00000457037.1:n.*557-31_*557-29delinsGTC
ENST00000567027.5:c.946-416_946-414delinsGTC
ENST00000567159.5:c.1147-31_1147-29delinsGTC	ENSP00000456489.1:n.1147-31_1147-29delinsGTC
ENST00000567411.5:c.*668-31_*668-29delinsGTC	ENSP00000455545.1:n.*668-31_*668-29delinsGTC
ENST00000568777.5:n.6551-416_6551-414delinsGTC
ENST00000569410.5:c.1074-31_1074-29delinsGTC	ENSP00000457125.1:n.1074-31_1074-29delinsGTC
NM_000520.4:c.1147-31_1147-29delinsGTC	NP_000511.2:n.1147-31_1147-29delinsGTC
NM_000520.5:c.1147-31_1147-29delinsGTC	NP_000511.2:n.1147-31_1147-29delinsGTC
NM_001318825.1:c.1180-31_1180-29delinsGTC	NP_001305754.1:n.1180-31_1180-29delinsGTC
NR_134869.1:n.1575-416_1575-414delinsGTC
NM_000520.6:c.1147-31_1147-29delinsGTC MANE Select	NP_000511.2:n.1147-31_1147-29delinsGTC
NM_001318825.2:c.1180-31_1180-29delinsGTC	NP_001305754.1:n.1180-31_1180-29delinsGTC
NR_134869.2:n.1116-416_1116-414delinsGTC
NR_134869.3:n.1116-416_1116-414delinsGTC