Canonical Allele Identifier: CA971330884

Gene: HEXA

Linked Data

• gnomAD v3: 15-72347299-G-GTTTTTTTTT
• gnomAD v4: 15-72347299-G-GTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347300_72347301insTTTTTTTTT , CM000677.2:g.72347300_72347301insTTTTTTTTT	GRCh38
NC_000015.9:g.72639641_72639642insTTTTTTTTT , CM000677.1:g.72639641_72639642insTTTTTTTTT	GRCh37
NC_000015.8:g.70426695_70426696insTTTTTTTTT	NCBI36
NG_009017.1:g.33880_33881insAAAAAAAAA
NG_009017.2:g.33880_33881insAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+748_1073+749insAAAAAAAAA	ENSP00000457521.2:n.1073+748_1073+749insAAAAAAAAA
ENST00000682061.1:c.*808+386_*808+387insAAAAAAAAA	ENSP00000508316.1:n.*808+386_*808+387insAAAAAAAAA
ENST00000682177.1:c.1189+386_1189+387insAAAAAAAAA	ENSP00000507409.1:n.1189+386_1189+387insAAAAAAAAA
ENST00000682461.1:c.1252+386_1252+387insAAAAAAAAA	ENSP00000507308.1:n.1252+386_1252+387insAAAAAAAAA
ENST00000682653.1:n.1466+386_1466+387insAAAAAAAAA
ENST00000682657.1:c.*483+748_*483+749insAAAAAAAAA	ENSP00000507753.1:n.*483+748_*483+749insAAAAAAAAA
ENST00000682721.1:c.*949+386_*949+387insAAAAAAAAA	ENSP00000507535.1:n.*949+386_*949+387insAAAAAAAAA
ENST00000682843.1:c.*971+748_*971+749insAAAAAAAAA	ENSP00000508173.1:n.*971+748_*971+749insAAAAAAAAA
ENST00000683003.1:c.*483+748_*483+749insAAAAAAAAA	ENSP00000507576.1:n.*483+748_*483+749insAAAAAAAAA
ENST00000683133.1:c.1330+386_1330+387insAAAAAAAAA	ENSP00000508108.1:n.1330+386_1330+387insAAAAAAAAA
ENST00000683228.1:n.1563_1564insAAAAAAAAA
ENST00000683243.1:c.*483+748_*483+749insAAAAAAAAA	ENSP00000507042.1:n.*483+748_*483+749insAAAAAAAAA
ENST00000683463.1:c.1074-590_1074-589insAAAAAAAAA	ENSP00000507986.1:n.1074-590_1074-589insAAAAAAAAA
ENST00000683548.1:n.1104+748_1104+749insAAAAAAAAA
ENST00000683579.1:c.*1044+386_*1044+387insAAAAAAAAA	ENSP00000506867.1:n.*1044+386_*1044+387insAAAAAAAAA
ENST00000683587.1:n.1177+386_1177+387insAAAAAAAAA
ENST00000683681.1:c.1146+386_1146+387insAAAAAAAAA	ENSP00000508110.1:n.1146+386_1146+387insAAAAAAAAA
ENST00000683735.1:c.*1044+386_*1044+387insAAAAAAAAA	ENSP00000508336.1:n.*1044+386_*1044+387insAAAAAAAAA
ENST00000683742.1:n.1363_1364insAAAAAAAAA
ENST00000683853.1:c.1074-590_1074-589insAAAAAAAAA	ENSP00000506834.1:n.1074-590_1074-589insAAAAAAAAA
ENST00000683860.1:c.1146+386_1146+387insAAAAAAAAA	ENSP00000507179.1:n.1146+386_1146+387insAAAAAAAAA
ENST00000683884.1:c.1146+386_1146+387insAAAAAAAAA	ENSP00000507004.1:n.1146+386_1146+387insAAAAAAAAA
ENST00000684041.1:c.1146+386_1146+387insAAAAAAAAA	ENSP00000508382.1:n.1146+386_1146+387insAAAAAAAAA
ENST00000684125.1:c.1073+748_1073+749insAAAAAAAAA	ENSP00000507320.1:n.1073+748_1073+749insAAAAAAAAA
ENST00000684203.1:n.2912-590_2912-589insAAAAAAAAA
ENST00000684231.1:c.*556+386_*556+387insAAAAAAAAA	ENSP00000507748.1:n.*556+386_*556+387insAAAAAAAAA
ENST00000684263.1:c.*86+386_*86+387insAAAAAAAAA	ENSP00000508369.1:n.*86+386_*86+387insAAAAAAAAA
ENST00000684305.1:c.1594+386_1594+387insAAAAAAAAA	ENSP00000506819.1:n.1594+386_1594+387insAAAAAAAAA
ENST00000684415.1:c.*14-590_*14-589insAAAAAAAAA	ENSP00000507227.1:n.*14-590_*14-589insAAAAAAAAA
ENST00000684520.1:c.1146+386_1146+387insAAAAAAAAA	ENSP00000506826.1:n.1146+386_1146+387insAAAAAAAAA
ENST00000684602.1:c.*812+386_*812+387insAAAAAAAAA	ENSP00000507996.1:n.*812+386_*812+387insAAAAAAAAA
ENST00000684667.1:c.1477+386_1477+387insAAAAAAAAA	ENSP00000507003.1:n.1477+386_1477+387insAAAAAAAAA
ENST00000268097.10:c.1146+386_1146+387insAAAAAAAAA MANE Select	ENSP00000268097.6:n.1146+386_1146+387insAAAAAAAAA
ENST00000268097.9:c.1146+386_1146+387insAAAAAAAAA	ENSP00000268097.5:n.1146+386_1146+387insAAAAAAAAA
ENST00000379915.4:c.413-975_413-974insAAAAAAAAA	ENSP00000478716.1:n.413-975_413-974insAAAAAAAAA
ENST00000563762.5:c.825+748_825+749insAAAAAAAAA	ENSP00000456346.1:n.825+748_825+749insAAAAAAAAA
ENST00000566304.5:c.1179+386_1179+387insAAAAAAAAA	ENSP00000455114.1:n.1179+386_1179+387insAAAAAAAAA
ENST00000566672.5:c.*556+386_*556+387insAAAAAAAAA	ENSP00000457037.1:n.*556+386_*556+387insAAAAAAAAA
ENST00000567027.5:c.945+748_945+749insAAAAAAAAA
ENST00000567159.5:c.1146+386_1146+387insAAAAAAAAA	ENSP00000456489.1:n.1146+386_1146+387insAAAAAAAAA
ENST00000567411.5:c.*667+386_*667+387insAAAAAAAAA	ENSP00000455545.1:n.*667+386_*667+387insAAAAAAAAA
ENST00000568777.5:n.6550+386_6550+387insAAAAAAAAA
ENST00000569410.5:c.1074-590_1074-589insAAAAAAAAA	ENSP00000457125.1:n.1074-590_1074-589insAAAAAAAAA
NM_000520.4:c.1146+386_1146+387insAAAAAAAAA	NP_000511.2:n.1146+386_1146+387insAAAAAAAAA
NM_000520.5:c.1146+386_1146+387insAAAAAAAAA	NP_000511.2:n.1146+386_1146+387insAAAAAAAAA
NM_001318825.1:c.1179+386_1179+387insAAAAAAAAA	NP_001305754.1:n.1179+386_1179+387insAAAAAAAAA
NR_134869.1:n.1574+748_1574+749insAAAAAAAAA
NM_000520.6:c.1146+386_1146+387insAAAAAAAAA MANE Select	NP_000511.2:n.1146+386_1146+387insAAAAAAAAA
NM_001318825.2:c.1179+386_1179+387insAAAAAAAAA	NP_001305754.1:n.1179+386_1179+387insAAAAAAAAA
NR_134869.2:n.1115+748_1115+749insAAAAAAAAA
NR_134869.3:n.1115+748_1115+749insAAAAAAAAA