Canonical Allele Identifier: CA2629340309

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345291-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345295_72345296del , CM000677.2:g.72345295_72345296del	GRCh38
NC_000015.9:g.72637636_72637637del , CM000677.1:g.72637636_72637637del	GRCh37
NC_000015.8:g.70424690_70424691del	NCBI36
NG_009017.1:g.35887_35888del
NG_009017.2:g.35887_35888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*339_*340del	ENSP00000457521.2:n.*339_*340del
ENST00000682061.1:c.*2025_*2026del	ENSP00000508316.1:n.*2025_*2026del
ENST00000682064.1:n.1753+153_1753+154del
ENST00000682177.1:c.1722_1723del	ENSP00000507409.1:n.1722_1723del
ENST00000682235.1:n.1549+153_1549+154del
ENST00000682461.1:c.1632+153_1632+154del	ENSP00000507308.1:n.1632+153_1632+154del
ENST00000682653.1:n.2683_2684del
ENST00000682657.1:c.*1516_*1517del	ENSP00000507753.1:n.*1516_*1517del
ENST00000682721.1:c.*1329+153_*1329+154del	ENSP00000507535.1:n.*1329+153_*1329+154del
ENST00000682843.1:c.*1167+153_*1167+154del	ENSP00000508173.1:n.*1167+153_*1167+154del
ENST00000683133.1:c.1710+153_1710+154del	ENSP00000508108.1:n.1710+153_1710+154del
ENST00000683243.1:c.*679+153_*679+154del	ENSP00000507042.1:n.*679+153_*679+154del
ENST00000683463.1:c.*1015+153_*1015+154del	ENSP00000507986.1:n.*1015+153_*1015+154del
ENST00000683548.1:n.1984+153_1984+154del
ENST00000683579.1:c.*1424+153_*1424+154del	ENSP00000506867.1:n.*1424+153_*1424+154del
ENST00000683587.1:n.2057+153_2057+154del
ENST00000683681.1:c.*204+153_*204+154del	ENSP00000508110.1:n.*204+153_*204+154del
ENST00000683735.1:c.*1924+153_*1924+154del	ENSP00000508336.1:n.*1924+153_*1924+154del
ENST00000683853.1:c.*484_*485del	ENSP00000506834.1:n.*484_*485del
ENST00000683860.1:c.*646+153_*646+154del	ENSP00000507179.1:n.*646+153_*646+154del
ENST00000683884.1:c.*1006_*1007del	ENSP00000507004.1:n.*1006_*1007del
ENST00000684125.1:c.*186+153_*186+154del	ENSP00000507320.1:n.*186+153_*186+154del
ENST00000684203.1:n.3975+153_3975+154del
ENST00000684231.1:c.*936+153_*936+154del	ENSP00000507748.1:n.*936+153_*936+154del
ENST00000684263.1:c.*1150+153_*1150+154del	ENSP00000508369.1:n.*1150+153_*1150+154del
ENST00000684305.1:c.1974+153_1974+154del	ENSP00000506819.1:n.1974+153_1974+154del
ENST00000684415.1:c.*1230_*1231del	ENSP00000507227.1:n.*1230_*1231del
ENST00000684520.1:c.*938_*939del	ENSP00000506826.1:n.*938_*939del
ENST00000684602.1:c.*1192+153_*1192+154del	ENSP00000507996.1:n.*1192+153_*1192+154del
ENST00000684667.1:c.1857+153_1857+154del	ENSP00000507003.1:n.1857+153_1857+154del
ENST00000268097.10:c.1526+153_1526+154del MANE Select	ENSP00000268097.6:n.1526+153_1526+154del
ENST00000268097.9:c.1526+153_1526+154del	ENSP00000268097.5:n.1526+153_1526+154del
ENST00000379915.4:c.608+153_608+154del	ENSP00000478716.1:n.608+153_608+154del
ENST00000564677.5:n.318+153_318+154del
ENST00000565873.1:n.437+153_437+154del
ENST00000566304.5:c.1559+153_1559+154del	ENSP00000455114.1:n.1559+153_1559+154del
ENST00000567027.5:c.1294_1295del
ENST00000567411.5:c.*1047+153_*1047+154del	ENSP00000455545.1:n.*1047+153_*1047+154del
ENST00000568777.5:n.6899_6900del
ENST00000569116.1:n.386_387del
NM_000520.4:c.1526+153_1526+154del	NP_000511.2:n.1526+153_1526+154del
NM_000520.5:c.1526+153_1526+154del	NP_000511.2:n.1526+153_1526+154del
NM_001318825.1:c.1559+153_1559+154del	NP_001305754.1:n.1559+153_1559+154del
NR_134869.1:n.1923_1924del
NM_000520.6:c.1526+153_1526+154del MANE Select	NP_000511.2:n.1526+153_1526+154del
NM_001318825.2:c.1559+153_1559+154del	NP_001305754.1:n.1559+153_1559+154del
NR_134869.2:n.1464_1465del
NR_134869.3:n.1464_1465del