Canonical Allele Identifier: CA16616929

Gene: HEXA

Linked Data

• ClinVar Variation Id: 417859
• ClinVar RCV Id: RCV000477853
• dbSNP Id: rs1555472406
• MyVariant Identifiers: chr15:g.72638920_72638923dupGGAT (hg19) ; chr15:g.72638919_72638920insGGAT (hg19) ; chr15:g.72346579_72346582dupGGAT (hg38) ; chr15:g.72346578_72346579insGGAT (hg38)
• PubMed: PMID:21228398 ; PMID:22975760 ; PMID:25287655

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346579_72346582dup , CM000677.2:g.72346579_72346582dup	GRCh38
NC_000015.9:g.72638920_72638923dup , CM000677.1:g.72638920_72638923dup	GRCh37
NC_000015.8:g.70425974_70425977dup	NCBI36
NG_009017.1:g.34598_34601dup
NG_009017.2:g.34598_34601dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-257_1074-254dup	ENSP00000457521.2:n.1074-257_1074-254dup
ENST00000682061.1:c.*937_*940dup	ENSP00000508316.1:n.*937_*940dup
ENST00000682064.1:n.617_620dup
ENST00000682177.1:c.1318_1321dup	ENSP00000507409.1:n.1318_1321dup
ENST00000682235.1:n.614_617dup
ENST00000682461.1:c.1381_1384dup	ENSP00000507308.1:n.1381_1384dup
ENST00000682653.1:n.1595_1598dup
ENST00000682657.1:c.*484-257_*484-254dup	ENSP00000507753.1:n.*484-257_*484-254dup
ENST00000682721.1:c.*1078_*1081dup	ENSP00000507535.1:n.*1078_*1081dup
ENST00000682843.1:c.*972-257_*972-254dup	ENSP00000508173.1:n.*972-257_*972-254dup
ENST00000683003.1:c.*484-257_*484-254dup	ENSP00000507576.1:n.*484-257_*484-254dup
ENST00000683133.1:c.1459_1462dup	ENSP00000508108.1:n.1459_1462dup
ENST00000683243.1:c.*484-257_*484-254dup	ENSP00000507042.1:n.*484-257_*484-254dup
ENST00000683463.1:c.*80_*83dup	ENSP00000507986.1:n.*80_*83dup
ENST00000683548.1:n.1105-257_1105-254dup
ENST00000683579.1:c.*1173_*1176dup	ENSP00000506867.1:n.*1173_*1176dup
ENST00000683587.1:n.1178-257_1178-254dup
ENST00000683681.1:c.1275_1278dup	ENSP00000508110.1:p.Tyr427IlefsTer5
ENST00000683735.1:c.*1045-257_*1045-254dup	ENSP00000508336.1:n.*1045-257_*1045-254dup
ENST00000683853.1:c.*80_*83dup	ENSP00000506834.1:n.*80_*83dup
ENST00000683860.1:c.1275_1278dup	ENSP00000507179.1:p.Tyr427IlefsTer5
ENST00000683884.1:c.1147-257_1147-254dup	ENSP00000507004.1:n.1147-257_1147-254dup
ENST00000684041.1:c.1275_1278dup	ENSP00000508382.1:p.Tyr427IlefsTer5
ENST00000684125.1:c.1074-257_1074-254dup	ENSP00000507320.1:n.1074-257_1074-254dup
ENST00000684203.1:n.3040_3043dup
ENST00000684231.1:c.*685_*688dup	ENSP00000507748.1:n.*685_*688dup
ENST00000684263.1:c.*215_*218dup	ENSP00000508369.1:n.*215_*218dup
ENST00000684305.1:c.1723_1726dup	ENSP00000506819.1:n.1723_1726dup
ENST00000684415.1:c.*142_*145dup	ENSP00000507227.1:n.*142_*145dup
ENST00000684520.1:c.1275_1278dup	ENSP00000506826.1:p.Tyr427IlefsTer5
ENST00000684602.1:c.*941_*944dup	ENSP00000507996.1:n.*941_*944dup
ENST00000684667.1:c.1606_1609dup	ENSP00000507003.1:n.1606_1609dup
ENST00000268097.10:c.1275_1278dup MANE Select	ENSP00000268097.6:p.Tyr427IlefsTer5
ENST00000268097.9:c.1275_1278dup	ENSP00000268097.5:p.Tyr427IlefsTer5
ENST00000379915.4:c.413-257_413-254dup	ENSP00000478716.1:n.413-257_413-254dup
ENST00000563762.5:c.826-257_826-254dup	ENSP00000456346.1:n.826-257_826-254dup
ENST00000566304.5:c.1308_1311dup	ENSP00000455114.1:p.Tyr438IlefsTer5
ENST00000566672.5:c.*685_*688dup	ENSP00000457037.1:n.*685_*688dup
ENST00000567027.5:c.946-257_946-254dup
ENST00000567159.5:c.1275_1278dup	ENSP00000456489.1:p.Tyr427IlefsTer5
ENST00000567411.5:c.*796_*799dup	ENSP00000455545.1:n.*796_*799dup
ENST00000568777.5:n.6551-257_6551-254dup
ENST00000569410.5:c.*80_*83dup	ENSP00000457125.1:n.*80_*83dup
NM_000520.4:c.1275_1278dup	NP_000511.2:p.Tyr427IlefsTer5
NM_000520.5:c.1275_1278dup	NP_000511.2:p.Tyr427IlefsTer5
NM_001318825.1:c.1308_1311dup	NP_001305754.1:p.Tyr438IlefsTer5
NR_134869.1:n.1575-257_1575-254dup
NM_000520.6:c.1275_1278dup MANE Select	NP_000511.2:p.Tyr427IlefsTer5
NM_001318825.2:c.1308_1311dup	NP_001305754.1:p.Tyr438IlefsTer5
NR_134869.2:n.1116-257_1116-254dup
NR_134869.3:n.1116-257_1116-254dup