Canonical Allele Identifier: CA715470417

Gene: HEXA

Linked Data

• dbSNP Id: rs1297048908
• gnomAD v3: 15-72345264-TTTG-T
• gnomAD v4: 15-72345264-TTTG-T
• MyVariant Identifiers: chr15:g.72637606_72637608del (hg19) ; chr15:g.72345265_72345267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345269_72345271del , CM000677.2:g.72345269_72345271del	GRCh38
NC_000015.9:g.72637610_72637612del , CM000677.1:g.72637610_72637612del	GRCh37
NC_000015.8:g.70424664_70424666del	NCBI36
NG_009017.1:g.35913_35915del
NG_009017.2:g.35913_35915del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*365_*367del	ENSP00000457521.2:n.*365_*367del
ENST00000682061.1:c.*2051_*2053del	ENSP00000508316.1:n.*2051_*2053del
ENST00000682064.1:n.1753+179_1753+181del
ENST00000682177.1:c.1748_1750del	ENSP00000507409.1:n.1748_1750del
ENST00000682235.1:n.1549+179_1549+181del
ENST00000682461.1:c.1632+179_1632+181del	ENSP00000507308.1:n.1632+179_1632+181del
ENST00000682653.1:n.2709_2711del
ENST00000682657.1:c.*1542_*1544del	ENSP00000507753.1:n.*1542_*1544del
ENST00000682721.1:c.*1329+179_*1329+181del	ENSP00000507535.1:n.*1329+179_*1329+181del
ENST00000682843.1:c.*1167+179_*1167+181del	ENSP00000508173.1:n.*1167+179_*1167+181del
ENST00000683133.1:c.1710+179_1710+181del	ENSP00000508108.1:n.1710+179_1710+181del
ENST00000683243.1:c.*679+179_*679+181del	ENSP00000507042.1:n.*679+179_*679+181del
ENST00000683463.1:c.*1015+179_*1015+181del	ENSP00000507986.1:n.*1015+179_*1015+181del
ENST00000683548.1:n.1984+179_1984+181del
ENST00000683579.1:c.*1424+179_*1424+181del	ENSP00000506867.1:n.*1424+179_*1424+181del
ENST00000683587.1:n.2057+179_2057+181del
ENST00000683681.1:c.*204+179_*204+181del	ENSP00000508110.1:n.*204+179_*204+181del
ENST00000683735.1:c.*1924+179_*1924+181del	ENSP00000508336.1:n.*1924+179_*1924+181del
ENST00000683853.1:c.*510_*512del	ENSP00000506834.1:n.*510_*512del
ENST00000683860.1:c.*646+179_*646+181del	ENSP00000507179.1:n.*646+179_*646+181del
ENST00000684125.1:c.*186+179_*186+181del	ENSP00000507320.1:n.*186+179_*186+181del
ENST00000684203.1:n.3975+179_3975+181del
ENST00000684231.1:c.*936+179_*936+181del	ENSP00000507748.1:n.*936+179_*936+181del
ENST00000684263.1:c.*1150+179_*1150+181del	ENSP00000508369.1:n.*1150+179_*1150+181del
ENST00000684305.1:c.1974+179_1974+181del	ENSP00000506819.1:n.1974+179_1974+181del
ENST00000684415.1:c.*1256_*1258del	ENSP00000507227.1:n.*1256_*1258del
ENST00000684520.1:c.*964_*966del	ENSP00000506826.1:n.*964_*966del
ENST00000684602.1:c.*1192+179_*1192+181del	ENSP00000507996.1:n.*1192+179_*1192+181del
ENST00000684667.1:c.1857+179_1857+181del	ENSP00000507003.1:n.1857+179_1857+181del
ENST00000268097.10:c.1526+179_1526+181del MANE Select	ENSP00000268097.6:n.1526+179_1526+181del
ENST00000268097.9:c.1526+179_1526+181del	ENSP00000268097.5:n.1526+179_1526+181del
ENST00000379915.4:c.608+179_608+181del	ENSP00000478716.1:n.608+179_608+181del
ENST00000564677.5:n.318+179_318+181del
ENST00000565873.1:n.437+179_437+181del
ENST00000566304.5:c.1559+179_1559+181del	ENSP00000455114.1:n.1559+179_1559+181del
ENST00000567027.5:c.1320_1322del
ENST00000567411.5:c.*1047+179_*1047+181del	ENSP00000455545.1:n.*1047+179_*1047+181del
ENST00000569116.1:n.412_414del
NM_000520.4:c.1526+179_1526+181del	NP_000511.2:n.1526+179_1526+181del
NM_000520.5:c.1526+179_1526+181del	NP_000511.2:n.1526+179_1526+181del
NM_001318825.1:c.1559+179_1559+181del	NP_001305754.1:n.1559+179_1559+181del
NR_134869.1:n.1949_1951del
NM_000520.6:c.1526+179_1526+181del MANE Select	NP_000511.2:n.1526+179_1526+181del
NM_001318825.2:c.1559+179_1559+181del	NP_001305754.1:n.1559+179_1559+181del
NR_134869.2:n.1490_1492del
NR_134869.3:n.1490_1492del