Canonical Allele Identifier: CA618766173

Gene: HEXA

Linked Data

• gnomAD v2: 15-72639561-TGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCC-T
• gnomAD v3: 15-72347220-TGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCC-T
• gnomAD v4: 15-72347220-TGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCC-T
• MyVariant Identifiers: chr15:g.72639562_72639624delinsTTTGG (hg19) ; chr15:g.72347221_72347283delinsTTTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347221_72347278del , CM000677.2:g.72347221_72347278del	GRCh38
NC_000015.9:g.72639562_72639619del , CM000677.1:g.72639562_72639619del	GRCh37
NC_000015.8:g.70426616_70426673del	NCBI36
NG_009017.1:g.33902_33959del
NG_009017.2:g.33902_33959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+770_1073+827del	ENSP00000457521.2:n.1073+770_1073+827del
ENST00000682061.1:c.*808+408_*808+465del	ENSP00000508316.1:n.*808+408_*808+465del
ENST00000682177.1:c.1189+408_1189+465del	ENSP00000507409.1:n.1189+408_1189+465del
ENST00000682461.1:c.1252+408_1252+465del	ENSP00000507308.1:n.1252+408_1252+465del
ENST00000682653.1:n.1466+408_1466+465del
ENST00000682657.1:c.*483+770_*483+827del	ENSP00000507753.1:n.*483+770_*483+827del
ENST00000682721.1:c.*949+408_*949+465del	ENSP00000507535.1:n.*949+408_*949+465del
ENST00000682843.1:c.*971+770_*971+827del	ENSP00000508173.1:n.*971+770_*971+827del
ENST00000683003.1:c.*483+770_*483+827del	ENSP00000507576.1:n.*483+770_*483+827del
ENST00000683133.1:c.1330+408_1330+465del	ENSP00000508108.1:n.1330+408_1330+465del
ENST00000683243.1:c.*483+770_*483+827del	ENSP00000507042.1:n.*483+770_*483+827del
ENST00000683463.1:c.1074-568_1074-511del	ENSP00000507986.1:n.1074-568_1074-511del
ENST00000683548.1:n.1104+770_1104+827del
ENST00000683579.1:c.*1044+408_*1044+465del	ENSP00000506867.1:n.*1044+408_*1044+465del
ENST00000683587.1:n.1177+408_1177+465del
ENST00000683681.1:c.1146+408_1146+465del	ENSP00000508110.1:n.1146+408_1146+465del
ENST00000683735.1:c.*1044+408_*1044+465del	ENSP00000508336.1:n.*1044+408_*1044+465del
ENST00000683742.1:n.1385_1442del
ENST00000683853.1:c.1074-568_1074-511del	ENSP00000506834.1:n.1074-568_1074-511del
ENST00000683860.1:c.1146+408_1146+465del	ENSP00000507179.1:n.1146+408_1146+465del
ENST00000683884.1:c.1146+408_1146+465del	ENSP00000507004.1:n.1146+408_1146+465del
ENST00000684041.1:c.1146+408_1146+465del	ENSP00000508382.1:n.1146+408_1146+465del
ENST00000684125.1:c.1073+770_1073+827del	ENSP00000507320.1:n.1073+770_1073+827del
ENST00000684203.1:n.2912-568_2912-511del
ENST00000684231.1:c.*556+408_*556+465del	ENSP00000507748.1:n.*556+408_*556+465del
ENST00000684263.1:c.*86+408_*86+465del	ENSP00000508369.1:n.*86+408_*86+465del
ENST00000684305.1:c.1594+408_1594+465del	ENSP00000506819.1:n.1594+408_1594+465del
ENST00000684415.1:c.*14-568_*14-511del	ENSP00000507227.1:n.*14-568_*14-511del
ENST00000684520.1:c.1146+408_1146+465del	ENSP00000506826.1:n.1146+408_1146+465del
ENST00000684602.1:c.*812+408_*812+465del	ENSP00000507996.1:n.*812+408_*812+465del
ENST00000684667.1:c.1477+408_1477+465del	ENSP00000507003.1:n.1477+408_1477+465del
ENST00000268097.10:c.1146+408_1146+465del MANE Select	ENSP00000268097.6:n.1146+408_1146+465del
ENST00000268097.9:c.1146+408_1146+465del	ENSP00000268097.5:n.1146+408_1146+465del
ENST00000379915.4:c.413-953_413-896del	ENSP00000478716.1:n.413-953_413-896del
ENST00000563762.5:c.825+770_825+827del	ENSP00000456346.1:n.825+770_825+827del
ENST00000566304.5:c.1179+408_1179+465del	ENSP00000455114.1:n.1179+408_1179+465del
ENST00000566672.5:c.*556+408_*556+465del	ENSP00000457037.1:n.*556+408_*556+465del
ENST00000567027.5:c.945+770_945+827del
ENST00000567159.5:c.1146+408_1146+465del	ENSP00000456489.1:n.1146+408_1146+465del
ENST00000567411.5:c.*667+408_*667+465del	ENSP00000455545.1:n.*667+408_*667+465del
ENST00000568777.5:n.6550+408_6550+465del
ENST00000569410.5:c.1074-568_1074-511del	ENSP00000457125.1:n.1074-568_1074-511del
NM_000520.4:c.1146+408_1146+465del	NP_000511.2:n.1146+408_1146+465del
NM_000520.5:c.1146+408_1146+465del	NP_000511.2:n.1146+408_1146+465del
NM_001318825.1:c.1179+408_1179+465del	NP_001305754.1:n.1179+408_1179+465del
NR_134869.1:n.1574+770_1574+827del
NM_000520.6:c.1146+408_1146+465del MANE Select	NP_000511.2:n.1146+408_1146+465del
NM_001318825.2:c.1179+408_1179+465del	NP_001305754.1:n.1179+408_1179+465del
NR_134869.2:n.1115+770_1115+827del
NR_134869.3:n.1115+770_1115+827del