Canonical Allele Identifier: CA2573054101

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1332717
• ClinVar RCV Id: RCV001805763
• dbSNP Id: rs2140319638

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345529_72345545del , CM000677.2:g.72345529_72345545del	GRCh38
NC_000015.9:g.72637870_72637886del , CM000677.1:g.72637870_72637886del	GRCh37
NC_000015.8:g.70424924_70424940del	NCBI36
NG_009017.1:g.35637_35653del
NG_009017.2:g.35637_35653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*89_*105del	ENSP00000457521.2:n.*89_*105del
ENST00000682061.1:c.*1775_*1791del	ENSP00000508316.1:n.*1775_*1791del
ENST00000682064.1:n.1656_1672del
ENST00000682177.1:c.1472_1488del	ENSP00000507409.1:n.1472_1488del
ENST00000682235.1:n.1452_1468del
ENST00000682461.1:c.1535_1551del	ENSP00000507308.1:n.1535_1551del
ENST00000682653.1:n.2433_2449del
ENST00000682657.1:c.*1266_*1282del	ENSP00000507753.1:n.*1266_*1282del
ENST00000682721.1:c.*1232_*1248del	ENSP00000507535.1:n.*1232_*1248del
ENST00000682843.1:c.*1070_*1086del	ENSP00000508173.1:n.*1070_*1086del
ENST00000683003.1:c.*1266_*1282del	ENSP00000507576.1:n.*1266_*1282del
ENST00000683133.1:c.1613_1629del	ENSP00000508108.1:n.1613_1629del
ENST00000683243.1:c.*582_*598del	ENSP00000507042.1:n.*582_*598del
ENST00000683463.1:c.*918_*934del	ENSP00000507986.1:n.*918_*934del
ENST00000683548.1:n.1887_1903del
ENST00000683579.1:c.*1327_*1343del	ENSP00000506867.1:n.*1327_*1343del
ENST00000683587.1:n.1960_1976del
ENST00000683681.1:c.*107_*123del	ENSP00000508110.1:n.*107_*123del
ENST00000683735.1:c.*1827_*1843del	ENSP00000508336.1:n.*1827_*1843del
ENST00000683853.1:c.*234_*250del	ENSP00000506834.1:n.*234_*250del
ENST00000683860.1:c.*549_*565del	ENSP00000507179.1:n.*549_*565del
ENST00000683884.1:c.*756_*772del	ENSP00000507004.1:n.*756_*772del
ENST00000684041.1:c.*562_*578del	ENSP00000508382.1:n.*562_*578del
ENST00000684125.1:c.*89_*105del	ENSP00000507320.1:n.*89_*105del
ENST00000684203.1:n.3878_3894del
ENST00000684231.1:c.*839_*855del	ENSP00000507748.1:n.*839_*855del
ENST00000684263.1:c.*1053_*1069del	ENSP00000508369.1:n.*1053_*1069del
ENST00000684305.1:c.1877_1893del	ENSP00000506819.1:n.1877_1893del
ENST00000684415.1:c.*980_*996del	ENSP00000507227.1:n.*980_*996del
ENST00000684520.1:c.*688_*704del	ENSP00000506826.1:n.*688_*704del
ENST00000684602.1:c.*1095_*1111del	ENSP00000507996.1:n.*1095_*1111del
ENST00000684667.1:c.1760_1776del	ENSP00000507003.1:n.1760_1776del
ENST00000268097.10:c.1429_1445del MANE Select	ENSP00000268097.6:p.Ala477LysfsTer10
ENST00000268097.9:c.1429_1445del	ENSP00000268097.5:p.Ala477LysfsTer10
ENST00000379915.4:c.511_527del	ENSP00000478716.1:p.Ala171LysfsTer10
ENST00000564677.5:n.221_237del
ENST00000565873.1:n.340_356del
ENST00000566304.5:c.1462_1478del	ENSP00000455114.1:p.Ala488LysfsTer10
ENST00000567027.5:c.1044_1060del
ENST00000567159.5:c.1429_1445del	ENSP00000456489.1:p.Ala477LysfsTer10
ENST00000567411.5:c.*950_*966del	ENSP00000455545.1:n.*950_*966del
ENST00000568777.5:n.6649_6665del
ENST00000569116.1:n.136_152del
NM_000520.4:c.1429_1445del	NP_000511.2:p.Ala477LysfsTer10
NM_000520.5:c.1429_1445del	NP_000511.2:p.Ala477LysfsTer10
NM_001318825.1:c.1462_1478del	NP_001305754.1:p.Ala488LysfsTer10
NR_134869.1:n.1673_1689del
NM_000520.6:c.1429_1445del MANE Select	NP_000511.2:p.Ala477LysfsTer10
NM_001318825.2:c.1462_1478del	NP_001305754.1:p.Ala488LysfsTer10
NR_134869.2:n.1214_1230del
NR_134869.3:n.1214_1230del