Canonical Allele Identifier: CA971330847

Gene: HEXA

Linked Data

• gnomAD v3: 15-72347224-G-GTTTTTTTTTTTTTTTTTT
• gnomAD v4: 15-72347224-G-GTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347225_72347226insTTTTTTTTTTTTTTTTTT , CM000677.2:g.72347225_72347226insTTTTTTTTTTTTTTTTTT	GRCh38
NC_000015.9:g.72639566_72639567insTTTTTTTTTTTTTTTTTT , CM000677.1:g.72639566_72639567insTTTTTTTTTTTTTTTTTT	GRCh37
NC_000015.8:g.70426620_70426621insTTTTTTTTTTTTTTTTTT	NCBI36
NG_009017.1:g.33955_33956insAAAAAAAAAAAAAAAAAA
NG_009017.2:g.33955_33956insAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+823_1073+824insAAAAAAAAAAAAAAAAAA	ENSP00000457521.2:n.1073+823_1073+824insAAAAAAAAAAAAAAAAAA
ENST00000682061.1:c.*808+461_*808+462insAAAAAAAAAAAAAAAAAA	ENSP00000508316.1:n.*808+461_*808+462insAAAAAAAAAAAAAAAAAA
ENST00000682177.1:c.1189+461_1189+462insAAAAAAAAAAAAAAAAAA	ENSP00000507409.1:n.1189+461_1189+462insAAAAAAAAAAAAAAAAAA
ENST00000682461.1:c.1252+461_1252+462insAAAAAAAAAAAAAAAAAA	ENSP00000507308.1:n.1252+461_1252+462insAAAAAAAAAAAAAAAAAA
ENST00000682653.1:n.1466+461_1466+462insAAAAAAAAAAAAAAAAAA
ENST00000682657.1:c.*483+823_*483+824insAAAAAAAAAAAAAAAAAA	ENSP00000507753.1:n.*483+823_*483+824insAAAAAAAAAAAAAAAAAA
ENST00000682721.1:c.*949+461_*949+462insAAAAAAAAAAAAAAAAAA	ENSP00000507535.1:n.*949+461_*949+462insAAAAAAAAAAAAAAAAAA
ENST00000682843.1:c.*971+823_*971+824insAAAAAAAAAAAAAAAAAA	ENSP00000508173.1:n.*971+823_*971+824insAAAAAAAAAAAAAAAAAA
ENST00000683003.1:c.*483+823_*483+824insAAAAAAAAAAAAAAAAAA	ENSP00000507576.1:n.*483+823_*483+824insAAAAAAAAAAAAAAAAAA
ENST00000683133.1:c.1330+461_1330+462insAAAAAAAAAAAAAAAAAA	ENSP00000508108.1:n.1330+461_1330+462insAAAAAAAAAAAAAAAAAA
ENST00000683243.1:c.*483+823_*483+824insAAAAAAAAAAAAAAAAAA	ENSP00000507042.1:n.*483+823_*483+824insAAAAAAAAAAAAAAAAAA
ENST00000683463.1:c.1074-515_1074-514insAAAAAAAAAAAAAAAAAA	ENSP00000507986.1:n.1074-515_1074-514insAAAAAAAAAAAAAAAAAA
ENST00000683548.1:n.1104+823_1104+824insAAAAAAAAAAAAAAAAAA
ENST00000683579.1:c.*1044+461_*1044+462insAAAAAAAAAAAAAAAAAA	ENSP00000506867.1:n.*1044+461_*1044+462insAAAAAAAAAAAAAAAAAA
ENST00000683587.1:n.1177+461_1177+462insAAAAAAAAAAAAAAAAAA
ENST00000683681.1:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA	ENSP00000508110.1:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
ENST00000683735.1:c.*1044+461_*1044+462insAAAAAAAAAAAAAAAAAA	ENSP00000508336.1:n.*1044+461_*1044+462insAAAAAAAAAAAAAAAAAA
ENST00000683742.1:n.1438_1439insAAAAAAAAAAAAAAAAAA
ENST00000683853.1:c.1074-515_1074-514insAAAAAAAAAAAAAAAAAA	ENSP00000506834.1:n.1074-515_1074-514insAAAAAAAAAAAAAAAAAA
ENST00000683860.1:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA	ENSP00000507179.1:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
ENST00000683884.1:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA	ENSP00000507004.1:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
ENST00000684041.1:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA	ENSP00000508382.1:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
ENST00000684125.1:c.1073+823_1073+824insAAAAAAAAAAAAAAAAAA	ENSP00000507320.1:n.1073+823_1073+824insAAAAAAAAAAAAAAAAAA
ENST00000684203.1:n.2912-515_2912-514insAAAAAAAAAAAAAAAAAA
ENST00000684231.1:c.*556+461_*556+462insAAAAAAAAAAAAAAAAAA	ENSP00000507748.1:n.*556+461_*556+462insAAAAAAAAAAAAAAAAAA
ENST00000684263.1:c.*86+461_*86+462insAAAAAAAAAAAAAAAAAA	ENSP00000508369.1:n.*86+461_*86+462insAAAAAAAAAAAAAAAAAA
ENST00000684305.1:c.1594+461_1594+462insAAAAAAAAAAAAAAAAAA	ENSP00000506819.1:n.1594+461_1594+462insAAAAAAAAAAAAAAAAAA
ENST00000684415.1:c.*14-515_*14-514insAAAAAAAAAAAAAAAAAA	ENSP00000507227.1:n.*14-515_*14-514insAAAAAAAAAAAAAAAAAA
ENST00000684520.1:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA	ENSP00000506826.1:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
ENST00000684602.1:c.*812+461_*812+462insAAAAAAAAAAAAAAAAAA	ENSP00000507996.1:n.*812+461_*812+462insAAAAAAAAAAAAAAAAAA
ENST00000684667.1:c.1477+461_1477+462insAAAAAAAAAAAAAAAAAA	ENSP00000507003.1:n.1477+461_1477+462insAAAAAAAAAAAAAAAAAA
ENST00000268097.10:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000268097.6:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
ENST00000268097.9:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA	ENSP00000268097.5:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
ENST00000379915.4:c.413-900_413-899insAAAAAAAAAAAAAAAAAA	ENSP00000478716.1:n.413-900_413-899insAAAAAAAAAAAAAAAAAA
ENST00000563762.5:c.825+823_825+824insAAAAAAAAAAAAAAAAAA	ENSP00000456346.1:n.825+823_825+824insAAAAAAAAAAAAAAAAAA
ENST00000566304.5:c.1179+461_1179+462insAAAAAAAAAAAAAAAAAA	ENSP00000455114.1:n.1179+461_1179+462insAAAAAAAAAAAAAAAAAA
ENST00000566672.5:c.*556+461_*556+462insAAAAAAAAAAAAAAAAAA	ENSP00000457037.1:n.*556+461_*556+462insAAAAAAAAAAAAAAAAAA
ENST00000567027.5:c.945+823_945+824insAAAAAAAAAAAAAAAAAA
ENST00000567159.5:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA	ENSP00000456489.1:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
ENST00000567411.5:c.*667+461_*667+462insAAAAAAAAAAAAAAAAAA	ENSP00000455545.1:n.*667+461_*667+462insAAAAAAAAAAAAAAAAAA
ENST00000568777.5:n.6550+461_6550+462insAAAAAAAAAAAAAAAAAA
ENST00000569410.5:c.1074-515_1074-514insAAAAAAAAAAAAAAAAAA	ENSP00000457125.1:n.1074-515_1074-514insAAAAAAAAAAAAAAAAAA
NM_000520.4:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA	NP_000511.2:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
NM_000520.5:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA	NP_000511.2:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
NM_001318825.1:c.1179+461_1179+462insAAAAAAAAAAAAAAAAAA	NP_001305754.1:n.1179+461_1179+462insAAAAAAAAAAAAAAAAAA
NR_134869.1:n.1574+823_1574+824insAAAAAAAAAAAAAAAAAA
NM_000520.6:c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA MANE Select	NP_000511.2:n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA
NM_001318825.2:c.1179+461_1179+462insAAAAAAAAAAAAAAAAAA	NP_001305754.1:n.1179+461_1179+462insAAAAAAAAAAAAAAAAAA
NR_134869.2:n.1115+823_1115+824insAAAAAAAAAAAAAAAAAA
NR_134869.3:n.1115+823_1115+824insAAAAAAAAAAAAAAAAAA