Canonical Allele Identifier: CA2629340288

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345272-ATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345280_72345282del , CM000677.2:g.72345280_72345282del	GRCh38
NC_000015.9:g.72637621_72637623del , CM000677.1:g.72637621_72637623del	GRCh37
NC_000015.8:g.70424675_70424677del	NCBI36
NG_009017.1:g.35905_35907del
NG_009017.2:g.35905_35907del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*357_*359del	ENSP00000457521.2:n.*357_*359del
ENST00000682061.1:c.*2043_*2045del	ENSP00000508316.1:n.*2043_*2045del
ENST00000682064.1:n.1753+171_1753+173del
ENST00000682177.1:c.1740_1742del	ENSP00000507409.1:n.1740_1742del
ENST00000682235.1:n.1549+171_1549+173del
ENST00000682461.1:c.1632+171_1632+173del	ENSP00000507308.1:n.1632+171_1632+173del
ENST00000682653.1:n.2701_2703del
ENST00000682657.1:c.*1534_*1536del	ENSP00000507753.1:n.*1534_*1536del
ENST00000682721.1:c.*1329+171_*1329+173del	ENSP00000507535.1:n.*1329+171_*1329+173del
ENST00000682843.1:c.*1167+171_*1167+173del	ENSP00000508173.1:n.*1167+171_*1167+173del
ENST00000683133.1:c.1710+171_1710+173del	ENSP00000508108.1:n.1710+171_1710+173del
ENST00000683243.1:c.*679+171_*679+173del	ENSP00000507042.1:n.*679+171_*679+173del
ENST00000683463.1:c.*1015+171_*1015+173del	ENSP00000507986.1:n.*1015+171_*1015+173del
ENST00000683548.1:n.1984+171_1984+173del
ENST00000683579.1:c.*1424+171_*1424+173del	ENSP00000506867.1:n.*1424+171_*1424+173del
ENST00000683587.1:n.2057+171_2057+173del
ENST00000683681.1:c.*204+171_*204+173del	ENSP00000508110.1:n.*204+171_*204+173del
ENST00000683735.1:c.*1924+171_*1924+173del	ENSP00000508336.1:n.*1924+171_*1924+173del
ENST00000683853.1:c.*502_*504del	ENSP00000506834.1:n.*502_*504del
ENST00000683860.1:c.*646+171_*646+173del	ENSP00000507179.1:n.*646+171_*646+173del
ENST00000683884.1:c.*1024_*1026del	ENSP00000507004.1:n.*1024_*1026del
ENST00000684125.1:c.*186+171_*186+173del	ENSP00000507320.1:n.*186+171_*186+173del
ENST00000684203.1:n.3975+171_3975+173del
ENST00000684231.1:c.*936+171_*936+173del	ENSP00000507748.1:n.*936+171_*936+173del
ENST00000684263.1:c.*1150+171_*1150+173del	ENSP00000508369.1:n.*1150+171_*1150+173del
ENST00000684305.1:c.1974+171_1974+173del	ENSP00000506819.1:n.1974+171_1974+173del
ENST00000684415.1:c.*1248_*1250del	ENSP00000507227.1:n.*1248_*1250del
ENST00000684520.1:c.*956_*958del	ENSP00000506826.1:n.*956_*958del
ENST00000684602.1:c.*1192+171_*1192+173del	ENSP00000507996.1:n.*1192+171_*1192+173del
ENST00000684667.1:c.1857+171_1857+173del	ENSP00000507003.1:n.1857+171_1857+173del
ENST00000268097.10:c.1526+171_1526+173del MANE Select	ENSP00000268097.6:n.1526+171_1526+173del
ENST00000268097.9:c.1526+171_1526+173del	ENSP00000268097.5:n.1526+171_1526+173del
ENST00000379915.4:c.608+171_608+173del	ENSP00000478716.1:n.608+171_608+173del
ENST00000564677.5:n.318+171_318+173del
ENST00000565873.1:n.437+171_437+173del
ENST00000566304.5:c.1559+171_1559+173del	ENSP00000455114.1:n.1559+171_1559+173del
ENST00000567027.5:c.1312_1314del
ENST00000567411.5:c.*1047+171_*1047+173del	ENSP00000455545.1:n.*1047+171_*1047+173del
ENST00000569116.1:n.404_406del
NM_000520.4:c.1526+171_1526+173del	NP_000511.2:n.1526+171_1526+173del
NM_000520.5:c.1526+171_1526+173del	NP_000511.2:n.1526+171_1526+173del
NM_001318825.1:c.1559+171_1559+173del	NP_001305754.1:n.1559+171_1559+173del
NR_134869.1:n.1941_1943del
NM_000520.6:c.1526+171_1526+173del MANE Select	NP_000511.2:n.1526+171_1526+173del
NM_001318825.2:c.1559+171_1559+173del	NP_001305754.1:n.1559+171_1559+173del
NR_134869.2:n.1482_1484del
NR_134869.3:n.1482_1484del