Canonical Allele Identifier: CA491111307

Gene: HEXA

Linked Data

• ClinVar Variation Id: 619222
• ClinVar RCV Id: RCV000758204 ; RCV003983198
• dbSNP Id: rs1567295184
• gnomAD v3: 15-72345472-CA-C
• gnomAD v4: 15-72345472-CA-C
• MyVariant Identifiers: chr15:g.72637814delA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345475del , CM000677.2:g.72345475del	GRCh38
NC_000015.9:g.72637816del , CM000677.1:g.72637816del	GRCh37
NC_000015.8:g.70424870del	NCBI36
NG_009017.1:g.35707del
NG_009017.2:g.35707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*159del	ENSP00000457521.2:n.*159del
ENST00000682061.1:c.*1845del	ENSP00000508316.1:n.*1845del
ENST00000682064.1:n.1726del
ENST00000682177.1:c.1542del	ENSP00000507409.1:n.1542del
ENST00000682235.1:n.1522del
ENST00000682461.1:c.1605del	ENSP00000507308.1:n.1605del
ENST00000682653.1:n.2503del
ENST00000682657.1:c.*1336del	ENSP00000507753.1:n.*1336del
ENST00000682721.1:c.*1302del	ENSP00000507535.1:n.*1302del
ENST00000682843.1:c.*1140del	ENSP00000508173.1:n.*1140del
ENST00000683003.1:c.*1336del	ENSP00000507576.1:n.*1336del
ENST00000683133.1:c.1683del	ENSP00000508108.1:n.1683del
ENST00000683243.1:c.*652del	ENSP00000507042.1:n.*652del
ENST00000683463.1:c.*988del	ENSP00000507986.1:n.*988del
ENST00000683548.1:n.1957del
ENST00000683579.1:c.*1397del	ENSP00000506867.1:n.*1397del
ENST00000683587.1:n.2030del
ENST00000683681.1:c.*177del	ENSP00000508110.1:n.*177del
ENST00000683735.1:c.*1897del	ENSP00000508336.1:n.*1897del
ENST00000683853.1:c.*304del	ENSP00000506834.1:n.*304del
ENST00000683860.1:c.*619del	ENSP00000507179.1:n.*619del
ENST00000683884.1:c.*826del	ENSP00000507004.1:n.*826del
ENST00000684041.1:c.*632del	ENSP00000508382.1:n.*632del
ENST00000684125.1:c.*159del	ENSP00000507320.1:n.*159del
ENST00000684203.1:n.3948del
ENST00000684231.1:c.*909del	ENSP00000507748.1:n.*909del
ENST00000684263.1:c.*1123del	ENSP00000508369.1:n.*1123del
ENST00000684305.1:c.1947del	ENSP00000506819.1:n.1947del
ENST00000684415.1:c.*1050del	ENSP00000507227.1:n.*1050del
ENST00000684520.1:c.*758del	ENSP00000506826.1:n.*758del
ENST00000684602.1:c.*1165del	ENSP00000507996.1:n.*1165del
ENST00000684667.1:c.1830del	ENSP00000507003.1:n.1830del
ENST00000268097.10:c.1499del MANE Select	ENSP00000268097.6:p.Leu500CysfsTer9
ENST00000268097.9:c.1499del	ENSP00000268097.5:p.Leu500CysfsTer9
ENST00000379915.4:c.581del	ENSP00000478716.1:p.Leu194CysfsTer9
ENST00000564677.5:n.291del
ENST00000565873.1:n.410del
ENST00000566304.5:c.1532del	ENSP00000455114.1:p.Leu511CysfsTer9
ENST00000567027.5:c.1114del
ENST00000567159.5:c.1499del	ENSP00000456489.1:p.Leu500CysfsTer9
ENST00000567411.5:c.*1020del	ENSP00000455545.1:n.*1020del
ENST00000568777.5:n.6719del
ENST00000569116.1:n.206del
NM_000520.4:c.1499del	NP_000511.2:p.Leu500CysfsTer9
NM_000520.5:c.1499del	NP_000511.2:p.Leu500CysfsTer9
NM_001318825.1:c.1532del	NP_001305754.1:p.Leu511CysfsTer9
NR_134869.1:n.1743del
NM_000520.6:c.1499del MANE Select	NP_000511.2:p.Leu500CysfsTer9
NM_001318825.2:c.1532del	NP_001305754.1:p.Leu511CysfsTer9
NR_134869.2:n.1284del
NR_134869.3:n.1284del