Canonical Allele Identifier: CA2629343220

Gene: HEXA

Linked Data

• gnomAD v4: 15-72347990-G-GGGAGGACCACACA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347998_72347999insACACAGGAGGACC , CM000677.2:g.72347998_72347999insACACAGGAGGACC	GRCh38
NC_000015.9:g.72640339_72640340insACACAGGAGGACC , CM000677.1:g.72640339_72640340insACACAGGAGGACC	GRCh37
NC_000015.8:g.70427393_70427394insACACAGGAGGACC	NCBI36
NG_009017.1:g.33189_33190insTGTGTGGTCCTCC
NG_009017.2:g.33189_33190insTGTGTGGTCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000457521.2:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000682061.1:c.*735+57_*735+58insTGTGTGGTCCTCC	ENSP00000508316.1:n.*735+57_*735+58insTGTGTGGTCCTCC
ENST00000682177.1:c.1116+57_1116+58insTGTGTGGTCCTCC	ENSP00000507409.1:n.1116+57_1116+58insTGTGTGGTCCTCC
ENST00000682461.1:c.1179+57_1179+58insTGTGTGGTCCTCC	ENSP00000507308.1:n.1179+57_1179+58insTGTGTGGTCCTCC
ENST00000682653.1:n.1161_1162insTGTGTGGTCCTCC
ENST00000682657.1:c.*483+57_*483+58insTGTGTGGTCCTCC	ENSP00000507753.1:n.*483+57_*483+58insTGTGTGGTCCTCC
ENST00000682721.1:c.*876+57_*876+58insTGTGTGGTCCTCC	ENSP00000507535.1:n.*876+57_*876+58insTGTGTGGTCCTCC
ENST00000682843.1:c.*971+57_*971+58insTGTGTGGTCCTCC	ENSP00000508173.1:n.*971+57_*971+58insTGTGTGGTCCTCC
ENST00000683003.1:c.*483+57_*483+58insTGTGTGGTCCTCC	ENSP00000507576.1:n.*483+57_*483+58insTGTGTGGTCCTCC
ENST00000683133.1:c.1257+57_1257+58insTGTGTGGTCCTCC	ENSP00000508108.1:n.1257+57_1257+58insTGTGTGGTCCTCC
ENST00000683228.1:n.1104+57_1104+58insTGTGTGGTCCTCC
ENST00000683243.1:c.*483+57_*483+58insTGTGTGGTCCTCC	ENSP00000507042.1:n.*483+57_*483+58insTGTGTGGTCCTCC
ENST00000683463.1:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000507986.1:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000683548.1:n.1104+57_1104+58insTGTGTGGTCCTCC
ENST00000683579.1:c.*971+57_*971+58insTGTGTGGTCCTCC	ENSP00000506867.1:n.*971+57_*971+58insTGTGTGGTCCTCC
ENST00000683587.1:n.1104+57_1104+58insTGTGTGGTCCTCC
ENST00000683681.1:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000508110.1:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000683735.1:c.*971+57_*971+58insTGTGTGGTCCTCC	ENSP00000508336.1:n.*971+57_*971+58insTGTGTGGTCCTCC
ENST00000683742.1:n.904+57_904+58insTGTGTGGTCCTCC
ENST00000683853.1:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000506834.1:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000683860.1:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000507179.1:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000683884.1:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000507004.1:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000684041.1:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000508382.1:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000684125.1:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000507320.1:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000684203.1:n.2911+57_2911+58insTGTGTGGTCCTCC
ENST00000684231.1:c.*483+57_*483+58insTGTGTGGTCCTCC	ENSP00000507748.1:n.*483+57_*483+58insTGTGTGGTCCTCC
ENST00000684263.1:c.*13+40_*13+41insTGTGTGGTCCTCC	ENSP00000508369.1:n.*13+40_*13+41insTGTGTGGTCCTCC
ENST00000684305.1:c.1521+57_1521+58insTGTGTGGTCCTCC	ENSP00000506819.1:n.1521+57_1521+58insTGTGTGGTCCTCC
ENST00000684415.1:c.*13+40_*13+41insTGTGTGGTCCTCC	ENSP00000507227.1:n.*13+40_*13+41insTGTGTGGTCCTCC
ENST00000684520.1:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000506826.1:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000684602.1:c.*739+57_*739+58insTGTGTGGTCCTCC	ENSP00000507996.1:n.*739+57_*739+58insTGTGTGGTCCTCC
ENST00000684667.1:c.1404+57_1404+58insTGTGTGGTCCTCC	ENSP00000507003.1:n.1404+57_1404+58insTGTGTGGTCCTCC
ENST00000268097.10:c.1073+57_1073+58insTGTGTGGTCCTCC MANE Select	ENSP00000268097.6:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000268097.9:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000268097.5:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000379915.4:c.413-1666_413-1665insTGTGTGGTCCTCC	ENSP00000478716.1:n.413-1666_413-1665insTGTGTGGTCCTCC
ENST00000563762.5:c.825+57_825+58insTGTGTGGTCCTCC	ENSP00000456346.1:n.825+57_825+58insTGTGTGGTCCTCC
ENST00000566304.5:c.1106+57_1106+58insTGTGTGGTCCTCC	ENSP00000455114.1:n.1106+57_1106+58insTGTGTGGTCCTCC
ENST00000566672.5:c.*483+57_*483+58insTGTGTGGTCCTCC	ENSP00000457037.1:n.*483+57_*483+58insTGTGTGGTCCTCC
ENST00000567027.5:c.945+57_945+58insTGTGTGGTCCTCC
ENST00000567159.5:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000456489.1:n.1073+57_1073+58insTGTGTGGTCCTCC
ENST00000567411.5:c.*594+57_*594+58insTGTGTGGTCCTCC	ENSP00000455545.1:n.*594+57_*594+58insTGTGTGGTCCTCC
ENST00000568777.5:n.6477+57_6477+58insTGTGTGGTCCTCC
ENST00000569410.5:c.1073+57_1073+58insTGTGTGGTCCTCC	ENSP00000457125.1:n.1073+57_1073+58insTGTGTGGTCCTCC
NM_000520.4:c.1073+57_1073+58insTGTGTGGTCCTCC	NP_000511.2:n.1073+57_1073+58insTGTGTGGTCCTCC
NM_000520.5:c.1073+57_1073+58insTGTGTGGTCCTCC	NP_000511.2:n.1073+57_1073+58insTGTGTGGTCCTCC
NM_001318825.1:c.1106+57_1106+58insTGTGTGGTCCTCC	NP_001305754.1:n.1106+57_1106+58insTGTGTGGTCCTCC
NR_134869.1:n.1574+57_1574+58insTGTGTGGTCCTCC
NM_000520.6:c.1073+57_1073+58insTGTGTGGTCCTCC MANE Select	NP_000511.2:n.1073+57_1073+58insTGTGTGGTCCTCC
NM_001318825.2:c.1106+57_1106+58insTGTGTGGTCCTCC	NP_001305754.1:n.1106+57_1106+58insTGTGTGGTCCTCC
NR_134869.2:n.1115+57_1115+58insTGTGTGGTCCTCC
NR_134869.3:n.1115+57_1115+58insTGTGTGGTCCTCC