Canonical Allele Identifier: CA1139664061

Gene: HEXA

Linked Data

• ClinVar Variation Id: 965758
• ClinVar RCV Id: RCV001240277
• dbSNP Id: rs1177678117

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346637_72346640delinsT , CM000677.2:g.72346637_72346640delinsT	GRCh38
NC_000015.9:g.72638978_72638981delinsT , CM000677.1:g.72638978_72638981delinsT	GRCh37
NC_000015.8:g.70426032_70426035delinsT	NCBI36
NG_009017.1:g.34540_34543delinsA
NG_009017.2:g.34540_34543delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1074-315_1074-312delinsA	ENSP00000457521.2:n.1074-315_1074-312delinsA
ENST00000682061.1:c.*879_*882delinsA	ENSP00000508316.1:n.*879_*882delinsA
ENST00000682064.1:n.559_562delinsA
ENST00000682177.1:c.1260_1263delinsA	ENSP00000507409.1:n.1260_1263delinsA
ENST00000682235.1:n.556_559delinsA
ENST00000682461.1:c.1323_1326delinsA	ENSP00000507308.1:n.1323_1326delinsA
ENST00000682653.1:n.1537_1540delinsA
ENST00000682657.1:c.*484-315_*484-312delinsA	ENSP00000507753.1:n.*484-315_*484-312delinsA
ENST00000682721.1:c.*1020_*1023delinsA	ENSP00000507535.1:n.*1020_*1023delinsA
ENST00000682843.1:c.*972-315_*972-312delinsA	ENSP00000508173.1:n.*972-315_*972-312delinsA
ENST00000683003.1:c.*484-315_*484-312delinsA	ENSP00000507576.1:n.*484-315_*484-312delinsA
ENST00000683133.1:c.1401_1404delinsA	ENSP00000508108.1:n.1401_1404delinsA
ENST00000683243.1:c.*484-315_*484-312delinsA	ENSP00000507042.1:n.*484-315_*484-312delinsA
ENST00000683463.1:c.*22_*25delinsA	ENSP00000507986.1:n.*22_*25delinsA
ENST00000683548.1:n.1105-315_1105-312delinsA
ENST00000683579.1:c.*1115_*1118delinsA	ENSP00000506867.1:n.*1115_*1118delinsA
ENST00000683587.1:n.1178-315_1178-312delinsA
ENST00000683681.1:c.1217_1220delinsA	ENSP00000508110.1:p.Leu406_Val407delinsHis
ENST00000683735.1:c.*1045-315_*1045-312delinsA	ENSP00000508336.1:n.*1045-315_*1045-312delinsA
ENST00000683853.1:c.*22_*25delinsA	ENSP00000506834.1:n.*22_*25delinsA
ENST00000683860.1:c.1217_1220delinsA	ENSP00000507179.1:p.Leu406_Val407delinsHis
ENST00000683884.1:c.1147-315_1147-312delinsA	ENSP00000507004.1:n.1147-315_1147-312delinsA
ENST00000684041.1:c.1217_1220delinsA	ENSP00000508382.1:p.Leu406_Val407delinsHis
ENST00000684125.1:c.1074-315_1074-312delinsA	ENSP00000507320.1:n.1074-315_1074-312delinsA
ENST00000684203.1:n.2982_2985delinsA
ENST00000684231.1:c.*627_*630delinsA	ENSP00000507748.1:n.*627_*630delinsA
ENST00000684263.1:c.*157_*160delinsA	ENSP00000508369.1:n.*157_*160delinsA
ENST00000684305.1:c.1665_1668delinsA	ENSP00000506819.1:n.1665_1668delinsA
ENST00000684415.1:c.*84_*87delinsA	ENSP00000507227.1:n.*84_*87delinsA
ENST00000684520.1:c.1217_1220delinsA	ENSP00000506826.1:p.Leu406_Val407delinsHis
ENST00000684602.1:c.*883_*886delinsA	ENSP00000507996.1:n.*883_*886delinsA
ENST00000684667.1:c.1548_1551delinsA	ENSP00000507003.1:n.1548_1551delinsA
ENST00000268097.10:c.1217_1220delinsA MANE Select	ENSP00000268097.6:p.Leu406_Val407delinsHis
ENST00000268097.9:c.1217_1220delinsA	ENSP00000268097.5:p.Leu406_Val407delinsHis
ENST00000379915.4:c.413-315_413-312delinsA	ENSP00000478716.1:n.413-315_413-312delinsA
ENST00000563762.5:c.826-315_826-312delinsA	ENSP00000456346.1:n.826-315_826-312delinsA
ENST00000566304.5:c.1250_1253delinsA	ENSP00000455114.1:p.Leu417_Val418delinsHis
ENST00000566672.5:c.*627_*630delinsA	ENSP00000457037.1:n.*627_*630delinsA
ENST00000567027.5:c.946-315_946-312delinsA
ENST00000567159.5:c.1217_1220delinsA	ENSP00000456489.1:p.Leu406_Val407delinsHis
ENST00000567411.5:c.*738_*741delinsA	ENSP00000455545.1:n.*738_*741delinsA
ENST00000568777.5:n.6551-315_6551-312delinsA
ENST00000569410.5:c.*22_*25delinsA	ENSP00000457125.1:n.*22_*25delinsA
NM_000520.4:c.1217_1220delinsA	NP_000511.2:p.Leu406_Val407delinsHis
NM_000520.5:c.1217_1220delinsA	NP_000511.2:p.Leu406_Val407delinsHis
NM_001318825.1:c.1250_1253delinsA	NP_001305754.1:p.Leu417_Val418delinsHis
NR_134869.1:n.1575-315_1575-312delinsA
NM_000520.6:c.1217_1220delinsA MANE Select	NP_000511.2:p.Leu406_Val407delinsHis
NM_001318825.2:c.1250_1253delinsA	NP_001305754.1:p.Leu417_Val418delinsHis
NR_134869.2:n.1116-315_1116-312delinsA
NR_134869.3:n.1116-315_1116-312delinsA