Canonical Allele Identifier: CA2629340320

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345305-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345306_72345307del , CM000677.2:g.72345306_72345307del	GRCh38
NC_000015.9:g.72637647_72637648del , CM000677.1:g.72637647_72637648del	GRCh37
NC_000015.8:g.70424701_70424702del	NCBI36
NG_009017.1:g.35873_35874del
NG_009017.2:g.35873_35874del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*325_*326del	ENSP00000457521.2:n.*325_*326del
ENST00000682061.1:c.*2011_*2012del	ENSP00000508316.1:n.*2011_*2012del
ENST00000682064.1:n.1753+139_1753+140del
ENST00000682177.1:c.1708_1709del	ENSP00000507409.1:n.1708_1709del
ENST00000682235.1:n.1549+139_1549+140del
ENST00000682461.1:c.1632+139_1632+140del	ENSP00000507308.1:n.1632+139_1632+140del
ENST00000682653.1:n.2669_2670del
ENST00000682657.1:c.*1502_*1503del	ENSP00000507753.1:n.*1502_*1503del
ENST00000682721.1:c.*1329+139_*1329+140del	ENSP00000507535.1:n.*1329+139_*1329+140de...
ENST00000682843.1:c.*1167+139_*1167+140del	ENSP00000508173.1:n.*1167+139_*1167+140de...
ENST00000683133.1:c.1710+139_1710+140del	ENSP00000508108.1:n.1710+139_1710+140del
ENST00000683243.1:c.*679+139_*679+140del	ENSP00000507042.1:n.*679+139_*679+140del
ENST00000683463.1:c.*1015+139_*1015+140del	ENSP00000507986.1:n.*1015+139_*1015+140de...
ENST00000683548.1:n.1984+139_1984+140del
ENST00000683579.1:c.*1424+139_*1424+140del	ENSP00000506867.1:n.*1424+139_*1424+140de...
ENST00000683587.1:n.2057+139_2057+140del
ENST00000683681.1:c.*204+139_*204+140del	ENSP00000508110.1:n.*204+139_*204+140del
ENST00000683735.1:c.*1924+139_*1924+140del	ENSP00000508336.1:n.*1924+139_*1924+140de...
ENST00000683853.1:c.*470_*471del	ENSP00000506834.1:n.*470_*471del
ENST00000683860.1:c.*646+139_*646+140del	ENSP00000507179.1:n.*646+139_*646+140del
ENST00000683884.1:c.*992_*993del	ENSP00000507004.1:n.*992_*993del
ENST00000684125.1:c.*186+139_*186+140del	ENSP00000507320.1:n.*186+139_*186+140del
ENST00000684203.1:n.3975+139_3975+140del
ENST00000684231.1:c.*936+139_*936+140del	ENSP00000507748.1:n.*936+139_*936+140del
ENST00000684263.1:c.*1150+139_*1150+140del	ENSP00000508369.1:n.*1150+139_*1150+140de...
ENST00000684305.1:c.1974+139_1974+140del	ENSP00000506819.1:n.1974+139_1974+140del
ENST00000684415.1:c.*1216_*1217del	ENSP00000507227.1:n.*1216_*1217del
ENST00000684520.1:c.*924_*925del	ENSP00000506826.1:n.*924_*925del
ENST00000684602.1:c.*1192+139_*1192+140del	ENSP00000507996.1:n.*1192+139_*1192+140de...
ENST00000684667.1:c.1857+139_1857+140del	ENSP00000507003.1:n.1857+139_1857+140del
ENST00000268097.10:c.1526+139_1526+140del MANE Select	ENSP00000268097.6:n.1526+139_1526+140del
ENST00000268097.9:c.1526+139_1526+140del	ENSP00000268097.5:n.1526+139_1526+140del
ENST00000379915.4:c.608+139_608+140del	ENSP00000478716.1:n.608+139_608+140del
ENST00000564677.5:n.318+139_318+140del
ENST00000565873.1:n.437+139_437+140del
ENST00000566304.5:c.1559+139_1559+140del	ENSP00000455114.1:n.1559+139_1559+140del
ENST00000567027.5:c.1280_1281del
ENST00000567411.5:c.*1047+139_*1047+140del	ENSP00000455545.1:n.*1047+139_*1047+140de...
ENST00000568777.5:n.6885_6886del
ENST00000569116.1:n.372_373del
NM_000520.4:c.1526+139_1526+140del	NP_000511.2:n.1526+139_1526+140del
NM_000520.5:c.1526+139_1526+140del	NP_000511.2:n.1526+139_1526+140del
NM_001318825.1:c.1559+139_1559+140del	NP_001305754.1:n.1559+139_1559+140del
NR_134869.1:n.1909_1910del
NM_000520.6:c.1526+139_1526+140del MANE Select	NP_000511.2:n.1526+139_1526+140del
NM_001318825.2:c.1559+139_1559+140del	NP_001305754.1:n.1559+139_1559+140del
NR_134869.2:n.1450_1451del
NR_134869.3:n.1450_1451del