Canonical Allele Identifier: CA971330860

Gene: HEXA

Linked Data

• gnomAD v3: 15-72347247-CACATAA-C
• gnomAD v4: 15-72347247-CACATAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347250_72347255del , CM000677.2:g.72347250_72347255del	GRCh38
NC_000015.9:g.72639591_72639596del , CM000677.1:g.72639591_72639596del	GRCh37
NC_000015.8:g.70426645_70426650del	NCBI36
NG_009017.1:g.33927_33932del
NG_009017.2:g.33927_33932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+795_1073+800del	ENSP00000457521.2:n.1073+795_1073+800del
ENST00000682061.1:c.*808+433_*808+438del	ENSP00000508316.1:n.*808+433_*808+438del
ENST00000682177.1:c.1189+433_1189+438del	ENSP00000507409.1:n.1189+433_1189+438del
ENST00000682461.1:c.1252+433_1252+438del	ENSP00000507308.1:n.1252+433_1252+438del
ENST00000682653.1:n.1466+433_1466+438del
ENST00000682657.1:c.*483+795_*483+800del	ENSP00000507753.1:n.*483+795_*483+800del
ENST00000682721.1:c.*949+433_*949+438del	ENSP00000507535.1:n.*949+433_*949+438del
ENST00000682843.1:c.*971+795_*971+800del	ENSP00000508173.1:n.*971+795_*971+800del
ENST00000683003.1:c.*483+795_*483+800del	ENSP00000507576.1:n.*483+795_*483+800del
ENST00000683133.1:c.1330+433_1330+438del	ENSP00000508108.1:n.1330+433_1330+438del
ENST00000683243.1:c.*483+795_*483+800del	ENSP00000507042.1:n.*483+795_*483+800del
ENST00000683463.1:c.1074-543_1074-538del	ENSP00000507986.1:n.1074-543_1074-538del
ENST00000683548.1:n.1104+795_1104+800del
ENST00000683579.1:c.*1044+433_*1044+438del	ENSP00000506867.1:n.*1044+433_*1044+438del
ENST00000683587.1:n.1177+433_1177+438del
ENST00000683681.1:c.1146+433_1146+438del	ENSP00000508110.1:n.1146+433_1146+438del
ENST00000683735.1:c.*1044+433_*1044+438del	ENSP00000508336.1:n.*1044+433_*1044+438del
ENST00000683742.1:n.1410_1415del
ENST00000683853.1:c.1074-543_1074-538del	ENSP00000506834.1:n.1074-543_1074-538del
ENST00000683860.1:c.1146+433_1146+438del	ENSP00000507179.1:n.1146+433_1146+438del
ENST00000683884.1:c.1146+433_1146+438del	ENSP00000507004.1:n.1146+433_1146+438del
ENST00000684041.1:c.1146+433_1146+438del	ENSP00000508382.1:n.1146+433_1146+438del
ENST00000684125.1:c.1073+795_1073+800del	ENSP00000507320.1:n.1073+795_1073+800del
ENST00000684203.1:n.2912-543_2912-538del
ENST00000684231.1:c.*556+433_*556+438del	ENSP00000507748.1:n.*556+433_*556+438del
ENST00000684263.1:c.*86+433_*86+438del	ENSP00000508369.1:n.*86+433_*86+438del
ENST00000684305.1:c.1594+433_1594+438del	ENSP00000506819.1:n.1594+433_1594+438del
ENST00000684415.1:c.*14-543_*14-538del	ENSP00000507227.1:n.*14-543_*14-538del
ENST00000684520.1:c.1146+433_1146+438del	ENSP00000506826.1:n.1146+433_1146+438del
ENST00000684602.1:c.*812+433_*812+438del	ENSP00000507996.1:n.*812+433_*812+438del
ENST00000684667.1:c.1477+433_1477+438del	ENSP00000507003.1:n.1477+433_1477+438del
ENST00000268097.10:c.1146+433_1146+438del MANE Select	ENSP00000268097.6:n.1146+433_1146+438del
ENST00000268097.9:c.1146+433_1146+438del	ENSP00000268097.5:n.1146+433_1146+438del
ENST00000379915.4:c.413-928_413-923del	ENSP00000478716.1:n.413-928_413-923del
ENST00000563762.5:c.825+795_825+800del	ENSP00000456346.1:n.825+795_825+800del
ENST00000566304.5:c.1179+433_1179+438del	ENSP00000455114.1:n.1179+433_1179+438del
ENST00000566672.5:c.*556+433_*556+438del	ENSP00000457037.1:n.*556+433_*556+438del
ENST00000567027.5:c.945+795_945+800del
ENST00000567159.5:c.1146+433_1146+438del	ENSP00000456489.1:n.1146+433_1146+438del
ENST00000567411.5:c.*667+433_*667+438del	ENSP00000455545.1:n.*667+433_*667+438del
ENST00000568777.5:n.6550+433_6550+438del
ENST00000569410.5:c.1074-543_1074-538del	ENSP00000457125.1:n.1074-543_1074-538del
NM_000520.4:c.1146+433_1146+438del	NP_000511.2:n.1146+433_1146+438del
NM_000520.5:c.1146+433_1146+438del	NP_000511.2:n.1146+433_1146+438del
NM_001318825.1:c.1179+433_1179+438del	NP_001305754.1:n.1179+433_1179+438del
NR_134869.1:n.1574+795_1574+800del
NM_000520.6:c.1146+433_1146+438del MANE Select	NP_000511.2:n.1146+433_1146+438del
NM_001318825.2:c.1179+433_1179+438del	NP_001305754.1:n.1179+433_1179+438del
NR_134869.2:n.1115+795_1115+800del
NR_134869.3:n.1115+795_1115+800del