Canonical Allele Identifier: CA2629341517

Gene: HEXA

Linked Data

• gnomAD v4: 15-72346679-C-CGAAGGCGCCGCGGGCTGGGGTCGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346680_72346681insAAGGCGCCGCGGGCTGGGGTCGGTG , CM000677.2:g.72346680_72346681insAAGGCGCCGCGGGCTGGGGTCGGTG	GRCh38
NC_000015.9:g.72639021_72639022insAAGGCGCCGCGGGCTGGGGTCGGTG , CM000677.1:g.72639021_72639022insAAGGCGCCGCGGGCTGGGGTCGGTG	GRCh37
NC_000015.8:g.70426075_70426076insAAGGCGCCGCGGGCTGGGGTCGGTG	NCBI36
NG_009017.1:g.34500_34501insACCGACCCCAGCCCGCGGCGCCTTC
NG_009017.2:g.34500_34501insACCGACCCCAGCCCGCGGCGCCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-355_1074-354insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000457521.2:n.1074-355_1074-354insACCGACCCCAGCCCGCGGCGC...
ENST00000682061.1:c.*839_*840insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000508316.1:n.*839_*840insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000682064.1:n.519_520insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000682177.1:c.1220_1221insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507409.1:n.1220_1221insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000682235.1:n.516_517insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000682461.1:c.1283_1284insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507308.1:n.1283_1284insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000682653.1:n.1497_1498insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000682657.1:c.*484-355_*484-354insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507753.1:n.*484-355_*484-354insACCGACCCCAGCCCGCGGCGC...
ENST00000682721.1:c.*980_*981insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507535.1:n.*980_*981insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000682843.1:c.*972-355_*972-354insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000508173.1:n.*972-355_*972-354insACCGACCCCAGCCCGCGGCGC...
ENST00000683003.1:c.*484-355_*484-354insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507576.1:n.*484-355_*484-354insACCGACCCCAGCCCGCGGCGC...
ENST00000683133.1:c.1361_1362insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000508108.1:n.1361_1362insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000683243.1:c.*484-355_*484-354insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507042.1:n.*484-355_*484-354insACCGACCCCAGCCCGCGGCGC...
ENST00000683463.1:c.1104_1105insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507986.1:p.Glu369ThrfsTer?
ENST00000683548.1:n.1105-355_1105-354insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000683579.1:c.*1075_*1076insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000506867.1:n.*1075_*1076insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000683587.1:n.1178-355_1178-354insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000683681.1:c.1177_1178insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000508110.1:p.Arg393HisfsTer?
ENST00000683735.1:c.*1045-355_*1045-354insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000508336.1:n.*1045-355_*1045-354insACCGACCCCAGCCCGCGGC...
ENST00000683853.1:c.1104_1105insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000506834.1:p.Glu369ThrfsTer?
ENST00000683860.1:c.1177_1178insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507179.1:p.Arg393HisfsTer?
ENST00000683884.1:c.1147-355_1147-354insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507004.1:n.1147-355_1147-354insACCGACCCCAGCCCGCGGCGC...
ENST00000684041.1:c.1177_1178insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000508382.1:p.Arg393HisfsTer?
ENST00000684125.1:c.1074-355_1074-354insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507320.1:n.1074-355_1074-354insACCGACCCCAGCCCGCGGCGC...
ENST00000684203.1:n.2942_2943insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000684231.1:c.*587_*588insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507748.1:n.*587_*588insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000684263.1:c.*117_*118insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000508369.1:n.*117_*118insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000684305.1:c.1625_1626insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000506819.1:n.1625_1626insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000684415.1:c.*44_*45insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507227.1:n.*44_*45insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000684520.1:c.1177_1178insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000506826.1:p.Arg393HisfsTer?
ENST00000684602.1:c.*843_*844insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507996.1:n.*843_*844insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000684667.1:c.1508_1509insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000507003.1:n.1508_1509insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000268097.10:c.1177_1178insACCGACCCCAGCCCGCGGCGCCTTC MANE Select	ENSP00000268097.6:p.Arg393HisfsTer?
ENST00000268097.9:c.1177_1178insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000268097.5:p.Arg393HisfsTer?
ENST00000379915.4:c.413-355_413-354insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000478716.1:n.413-355_413-354insACCGACCCCAGCCCGCGGCGCCT...
ENST00000563762.5:c.826-355_826-354insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000456346.1:n.826-355_826-354insACCGACCCCAGCCCGCGGCGCCT...
ENST00000566304.5:c.1210_1211insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000455114.1:p.Arg404HisfsTer?
ENST00000566672.5:c.*587_*588insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000457037.1:n.*587_*588insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000567027.5:c.946-355_946-354insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000567159.5:c.1177_1178insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000456489.1:p.Arg393HisfsTer?
ENST00000567411.5:c.*698_*699insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000455545.1:n.*698_*699insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000568777.5:n.6551-355_6551-354insACCGACCCCAGCCCGCGGCGCCTTC
ENST00000569410.5:c.1104_1105insACCGACCCCAGCCCGCGGCGCCTTC	ENSP00000457125.1:p.Glu369ThrfsTer?
NM_000520.4:c.1177_1178insACCGACCCCAGCCCGCGGCGCCTTC	NP_000511.2:p.Arg393HisfsTer?
NM_000520.5:c.1177_1178insACCGACCCCAGCCCGCGGCGCCTTC	NP_000511.2:p.Arg393HisfsTer?
NM_001318825.1:c.1210_1211insACCGACCCCAGCCCGCGGCGCCTTC	NP_001305754.1:p.Arg404HisfsTer?
NR_134869.1:n.1575-355_1575-354insACCGACCCCAGCCCGCGGCGCCTTC
NM_000520.6:c.1177_1178insACCGACCCCAGCCCGCGGCGCCTTC MANE Select	NP_000511.2:p.Arg393HisfsTer?
NM_001318825.2:c.1210_1211insACCGACCCCAGCCCGCGGCGCCTTC	NP_001305754.1:p.Arg404HisfsTer?
NR_134869.2:n.1116-355_1116-354insACCGACCCCAGCCCGCGGCGCCTTC
NR_134869.3:n.1116-355_1116-354insACCGACCCCAGCCCGCGGCGCCTTC