Canonical Allele Identifier: CA2629340301

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345285-TGAATAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345286_72345291del , CM000677.2:g.72345286_72345291del	GRCh38
NC_000015.9:g.72637627_72637632del , CM000677.1:g.72637627_72637632del	GRCh37
NC_000015.8:g.70424681_70424686del	NCBI36
NG_009017.1:g.35889_35894del
NG_009017.2:g.35889_35894del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*341_*346del	ENSP00000457521.2:n.*341_*346del
ENST00000682061.1:c.*2027_*2032del	ENSP00000508316.1:n.*2027_*2032del
ENST00000682064.1:n.1753+155_1753+160del
ENST00000682177.1:c.1724_1729del	ENSP00000507409.1:n.1724_1729del
ENST00000682235.1:n.1549+155_1549+160del
ENST00000682461.1:c.1632+155_1632+160del	ENSP00000507308.1:n.1632+155_1632+160del
ENST00000682653.1:n.2685_2690del
ENST00000682657.1:c.*1518_*1523del	ENSP00000507753.1:n.*1518_*1523del
ENST00000682721.1:c.*1329+155_*1329+160del	ENSP00000507535.1:n.*1329+155_*1329+160de...
ENST00000682843.1:c.*1167+155_*1167+160del	ENSP00000508173.1:n.*1167+155_*1167+160de...
ENST00000683133.1:c.1710+155_1710+160del	ENSP00000508108.1:n.1710+155_1710+160del
ENST00000683243.1:c.*679+155_*679+160del	ENSP00000507042.1:n.*679+155_*679+160del
ENST00000683463.1:c.*1015+155_*1015+160del	ENSP00000507986.1:n.*1015+155_*1015+160de...
ENST00000683548.1:n.1984+155_1984+160del
ENST00000683579.1:c.*1424+155_*1424+160del	ENSP00000506867.1:n.*1424+155_*1424+160de...
ENST00000683587.1:n.2057+155_2057+160del
ENST00000683681.1:c.*204+155_*204+160del	ENSP00000508110.1:n.*204+155_*204+160del
ENST00000683735.1:c.*1924+155_*1924+160del	ENSP00000508336.1:n.*1924+155_*1924+160de...
ENST00000683853.1:c.*486_*491del	ENSP00000506834.1:n.*486_*491del
ENST00000683860.1:c.*646+155_*646+160del	ENSP00000507179.1:n.*646+155_*646+160del
ENST00000683884.1:c.*1008_*1013del	ENSP00000507004.1:n.*1008_*1013del
ENST00000684125.1:c.*186+155_*186+160del	ENSP00000507320.1:n.*186+155_*186+160del
ENST00000684203.1:n.3975+155_3975+160del
ENST00000684231.1:c.*936+155_*936+160del	ENSP00000507748.1:n.*936+155_*936+160del
ENST00000684263.1:c.*1150+155_*1150+160del	ENSP00000508369.1:n.*1150+155_*1150+160de...
ENST00000684305.1:c.1974+155_1974+160del	ENSP00000506819.1:n.1974+155_1974+160del
ENST00000684415.1:c.*1232_*1237del	ENSP00000507227.1:n.*1232_*1237del
ENST00000684520.1:c.*940_*945del	ENSP00000506826.1:n.*940_*945del
ENST00000684602.1:c.*1192+155_*1192+160del	ENSP00000507996.1:n.*1192+155_*1192+160de...
ENST00000684667.1:c.1857+155_1857+160del	ENSP00000507003.1:n.1857+155_1857+160del
ENST00000268097.10:c.1526+155_1526+160del MANE Select	ENSP00000268097.6:n.1526+155_1526+160del
ENST00000268097.9:c.1526+155_1526+160del	ENSP00000268097.5:n.1526+155_1526+160del
ENST00000379915.4:c.608+155_608+160del	ENSP00000478716.1:n.608+155_608+160del
ENST00000564677.5:n.318+155_318+160del
ENST00000565873.1:n.437+155_437+160del
ENST00000566304.5:c.1559+155_1559+160del	ENSP00000455114.1:n.1559+155_1559+160del
ENST00000567027.5:c.1296_1301del
ENST00000567411.5:c.*1047+155_*1047+160del	ENSP00000455545.1:n.*1047+155_*1047+160de...
ENST00000568777.5:n.6901_6906del
ENST00000569116.1:n.388_393del
NM_000520.4:c.1526+155_1526+160del	NP_000511.2:n.1526+155_1526+160del
NM_000520.5:c.1526+155_1526+160del	NP_000511.2:n.1526+155_1526+160del
NM_001318825.1:c.1559+155_1559+160del	NP_001305754.1:n.1559+155_1559+160del
NR_134869.1:n.1925_1930del
NM_000520.6:c.1526+155_1526+160del MANE Select	NP_000511.2:n.1526+155_1526+160del
NM_001318825.2:c.1559+155_1559+160del	NP_001305754.1:n.1559+155_1559+160del
NR_134869.2:n.1466_1471del
NR_134869.3:n.1466_1471del