Canonical Allele Identifier: CA2629340324

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345309-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345310_72345311del , CM000677.2:g.72345310_72345311del	GRCh38
NC_000015.9:g.72637651_72637652del , CM000677.1:g.72637651_72637652del	GRCh37
NC_000015.8:g.70424705_70424706del	NCBI36
NG_009017.1:g.35869_35870del
NG_009017.2:g.35869_35870del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*321_*322del	ENSP00000457521.2:n.*321_*322del
ENST00000682061.1:c.*2007_*2008del	ENSP00000508316.1:n.*2007_*2008del
ENST00000682064.1:n.1753+135_1753+136del
ENST00000682177.1:c.1704_1705del	ENSP00000507409.1:n.1704_1705del
ENST00000682235.1:n.1549+135_1549+136del
ENST00000682461.1:c.1632+135_1632+136del	ENSP00000507308.1:n.1632+135_1632+136del
ENST00000682653.1:n.2665_2666del
ENST00000682657.1:c.*1498_*1499del	ENSP00000507753.1:n.*1498_*1499del
ENST00000682721.1:c.*1329+135_*1329+136del	ENSP00000507535.1:n.*1329+135_*1329+136de...
ENST00000682843.1:c.*1167+135_*1167+136del	ENSP00000508173.1:n.*1167+135_*1167+136de...
ENST00000683133.1:c.1710+135_1710+136del	ENSP00000508108.1:n.1710+135_1710+136del
ENST00000683243.1:c.*679+135_*679+136del	ENSP00000507042.1:n.*679+135_*679+136del
ENST00000683463.1:c.*1015+135_*1015+136del	ENSP00000507986.1:n.*1015+135_*1015+136de...
ENST00000683548.1:n.1984+135_1984+136del
ENST00000683579.1:c.*1424+135_*1424+136del	ENSP00000506867.1:n.*1424+135_*1424+136de...
ENST00000683587.1:n.2057+135_2057+136del
ENST00000683681.1:c.*204+135_*204+136del	ENSP00000508110.1:n.*204+135_*204+136del
ENST00000683735.1:c.*1924+135_*1924+136del	ENSP00000508336.1:n.*1924+135_*1924+136de...
ENST00000683853.1:c.*466_*467del	ENSP00000506834.1:n.*466_*467del
ENST00000683860.1:c.*646+135_*646+136del	ENSP00000507179.1:n.*646+135_*646+136del
ENST00000683884.1:c.*988_*989del	ENSP00000507004.1:n.*988_*989del
ENST00000684125.1:c.*186+135_*186+136del	ENSP00000507320.1:n.*186+135_*186+136del
ENST00000684203.1:n.3975+135_3975+136del
ENST00000684231.1:c.*936+135_*936+136del	ENSP00000507748.1:n.*936+135_*936+136del
ENST00000684263.1:c.*1150+135_*1150+136del	ENSP00000508369.1:n.*1150+135_*1150+136de...
ENST00000684305.1:c.1974+135_1974+136del	ENSP00000506819.1:n.1974+135_1974+136del
ENST00000684415.1:c.*1212_*1213del	ENSP00000507227.1:n.*1212_*1213del
ENST00000684520.1:c.*920_*921del	ENSP00000506826.1:n.*920_*921del
ENST00000684602.1:c.*1192+135_*1192+136del	ENSP00000507996.1:n.*1192+135_*1192+136de...
ENST00000684667.1:c.1857+135_1857+136del	ENSP00000507003.1:n.1857+135_1857+136del
ENST00000268097.10:c.1526+135_1526+136del MANE Select	ENSP00000268097.6:n.1526+135_1526+136del
ENST00000268097.9:c.1526+135_1526+136del	ENSP00000268097.5:n.1526+135_1526+136del
ENST00000379915.4:c.608+135_608+136del	ENSP00000478716.1:n.608+135_608+136del
ENST00000564677.5:n.318+135_318+136del
ENST00000565873.1:n.437+135_437+136del
ENST00000566304.5:c.1559+135_1559+136del	ENSP00000455114.1:n.1559+135_1559+136del
ENST00000567027.5:c.1276_1277del
ENST00000567411.5:c.*1047+135_*1047+136del	ENSP00000455545.1:n.*1047+135_*1047+136de...
ENST00000568777.5:n.6881_6882del
ENST00000569116.1:n.368_369del
NM_000520.4:c.1526+135_1526+136del	NP_000511.2:n.1526+135_1526+136del
NM_000520.5:c.1526+135_1526+136del	NP_000511.2:n.1526+135_1526+136del
NM_001318825.1:c.1559+135_1559+136del	NP_001305754.1:n.1559+135_1559+136del
NR_134869.1:n.1905_1906del
NM_000520.6:c.1526+135_1526+136del MANE Select	NP_000511.2:n.1526+135_1526+136del
NM_001318825.2:c.1559+135_1559+136del	NP_001305754.1:n.1559+135_1559+136del
NR_134869.2:n.1446_1447del
NR_134869.3:n.1446_1447del