Canonical Allele Identifier: CA715471580

Gene: HEXA

Linked Data

• dbSNP Id: rs1290203180
• gnomAD v3: 15-72346415-G-GC
• gnomAD v4: 15-72346415-G-GC
• MyVariant Identifiers: chr15:g.72638756_72638757insC (hg19) ; chr15:g.72346415_72346416insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346416dup , CM000677.2:g.72346416dup	GRCh38
NC_000015.9:g.72638757dup , CM000677.1:g.72638757dup	GRCh37
NC_000015.8:g.70425811dup	NCBI36
NG_009017.1:g.34764dup
NG_009017.2:g.34764dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-91dup	ENSP00000457521.2:n.1074-91dup
ENST00000682061.1:c.*993-91dup	ENSP00000508316.1:n.*993-91dup
ENST00000682064.1:n.783dup
ENST00000682177.1:c.1374-91dup	ENSP00000507409.1:n.1374-91dup
ENST00000682235.1:n.670-91dup
ENST00000682461.1:c.1437-91dup	ENSP00000507308.1:n.1437-91dup
ENST00000682653.1:n.1651-91dup
ENST00000682657.1:c.*484-91dup	ENSP00000507753.1:n.*484-91dup
ENST00000682721.1:c.*1134-91dup	ENSP00000507535.1:n.*1134-91dup
ENST00000682843.1:c.*972-91dup	ENSP00000508173.1:n.*972-91dup
ENST00000683003.1:c.*484-91dup	ENSP00000507576.1:n.*484-91dup
ENST00000683133.1:c.1515-91dup	ENSP00000508108.1:n.1515-91dup
ENST00000683243.1:c.*484-91dup	ENSP00000507042.1:n.*484-91dup
ENST00000683463.1:c.*136-91dup	ENSP00000507986.1:n.*136-91dup
ENST00000683548.1:n.1105-91dup
ENST00000683579.1:c.*1229-91dup	ENSP00000506867.1:n.*1229-91dup
ENST00000683587.1:n.1178-91dup
ENST00000683681.1:c.1331-91dup	ENSP00000508110.1:n.1331-91dup
ENST00000683735.1:c.*1045-91dup	ENSP00000508336.1:n.*1045-91dup
ENST00000683853.1:c.*136-91dup	ENSP00000506834.1:n.*136-91dup
ENST00000683860.1:c.1331-91dup	ENSP00000507179.1:n.1331-91dup
ENST00000683884.1:c.1147-91dup	ENSP00000507004.1:n.1147-91dup
ENST00000684041.1:c.1331-91dup	ENSP00000508382.1:n.1331-91dup
ENST00000684125.1:c.1074-91dup	ENSP00000507320.1:n.1074-91dup
ENST00000684203.1:n.3096-91dup
ENST00000684231.1:c.*741-91dup	ENSP00000507748.1:n.*741-91dup
ENST00000684263.1:c.*271-91dup	ENSP00000508369.1:n.*271-91dup
ENST00000684305.1:c.1779-91dup	ENSP00000506819.1:n.1779-91dup
ENST00000684415.1:c.*198-91dup	ENSP00000507227.1:n.*198-91dup
ENST00000684520.1:c.1331-91dup	ENSP00000506826.1:n.1331-91dup
ENST00000684602.1:c.*997-91dup	ENSP00000507996.1:n.*997-91dup
ENST00000684667.1:c.1662-91dup	ENSP00000507003.1:n.1662-91dup
ENST00000268097.10:c.1331-91dup MANE Select	ENSP00000268097.6:n.1331-91dup
ENST00000268097.9:c.1331-91dup	ENSP00000268097.5:n.1331-91dup
ENST00000379915.4:c.413-91dup	ENSP00000478716.1:n.413-91dup
ENST00000563762.5:c.826-91dup	ENSP00000456346.1:n.826-91dup
ENST00000566304.5:c.1364-91dup	ENSP00000455114.1:n.1364-91dup
ENST00000566672.5:c.*741-91dup	ENSP00000457037.1:n.*741-91dup
ENST00000567027.5:c.946-91dup
ENST00000567159.5:c.1331-91dup	ENSP00000456489.1:n.1331-91dup
ENST00000567411.5:c.*852-91dup	ENSP00000455545.1:n.*852-91dup
ENST00000568777.5:n.6551-91dup
ENST00000569410.5:c.*136-91dup	ENSP00000457125.1:n.*136-91dup
NM_000520.4:c.1331-91dup	NP_000511.2:n.1331-91dup
NM_000520.5:c.1331-91dup	NP_000511.2:n.1331-91dup
NM_001318825.1:c.1364-91dup	NP_001305754.1:n.1364-91dup
NR_134869.1:n.1575-91dup
NM_000520.6:c.1331-91dup MANE Select	NP_000511.2:n.1331-91dup
NM_001318825.2:c.1364-91dup	NP_001305754.1:n.1364-91dup
NR_134869.2:n.1116-91dup
NR_134869.3:n.1116-91dup