Canonical Allele Identifier: CA618961258

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1148472
• ClinVar RCV Id: RCV001488338
• dbSNP Id: rs1165016914
• gnomAD v2: 15-72637776-AGCTT-A
• gnomAD v3: 15-72345435-AGCTT-A
• gnomAD v4: 15-72345435-AGCTT-A
• MyVariant Identifiers: chr15:g.72637777_72637780del (hg19) ; chr15:g.72345436_72345439del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345440_72345443del , CM000677.2:g.72345440_72345443del	GRCh38
NC_000015.9:g.72637781_72637784del , CM000677.1:g.72637781_72637784del	GRCh37
NC_000015.8:g.70424835_70424838del	NCBI36
NG_009017.1:g.35741_35744del
NG_009017.2:g.35741_35744del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*193_*196del	ENSP00000457521.2:n.*193_*196del
ENST00000682061.1:c.*1879_*1882del	ENSP00000508316.1:n.*1879_*1882del
ENST00000682064.1:n.1753+7_1753+10del
ENST00000682177.1:c.1576_1579del	ENSP00000507409.1:n.1576_1579del
ENST00000682235.1:n.1549+7_1549+10del
ENST00000682461.1:c.1632+7_1632+10del	ENSP00000507308.1:n.1632+7_1632+10del
ENST00000682653.1:n.2537_2540del
ENST00000682657.1:c.*1370_*1373del	ENSP00000507753.1:n.*1370_*1373del
ENST00000682721.1:c.*1329+7_*1329+10del	ENSP00000507535.1:n.*1329+7_*1329+10del
ENST00000682843.1:c.*1167+7_*1167+10del	ENSP00000508173.1:n.*1167+7_*1167+10del
ENST00000683003.1:c.*1370_*1373del	ENSP00000507576.1:n.*1370_*1373del
ENST00000683133.1:c.1710+7_1710+10del	ENSP00000508108.1:n.1710+7_1710+10del
ENST00000683243.1:c.*679+7_*679+10del	ENSP00000507042.1:n.*679+7_*679+10del
ENST00000683463.1:c.*1015+7_*1015+10del	ENSP00000507986.1:n.*1015+7_*1015+10del
ENST00000683548.1:n.1984+7_1984+10del
ENST00000683579.1:c.*1424+7_*1424+10del	ENSP00000506867.1:n.*1424+7_*1424+10del
ENST00000683587.1:n.2057+7_2057+10del
ENST00000683681.1:c.*204+7_*204+10del	ENSP00000508110.1:n.*204+7_*204+10del
ENST00000683735.1:c.*1924+7_*1924+10del	ENSP00000508336.1:n.*1924+7_*1924+10del
ENST00000683853.1:c.*338_*341del	ENSP00000506834.1:n.*338_*341del
ENST00000683860.1:c.*646+7_*646+10del	ENSP00000507179.1:n.*646+7_*646+10del
ENST00000683884.1:c.*860_*863del	ENSP00000507004.1:n.*860_*863del
ENST00000684125.1:c.*186+7_*186+10del	ENSP00000507320.1:n.*186+7_*186+10del
ENST00000684203.1:n.3975+7_3975+10del
ENST00000684231.1:c.*936+7_*936+10del	ENSP00000507748.1:n.*936+7_*936+10del
ENST00000684263.1:c.*1150+7_*1150+10del	ENSP00000508369.1:n.*1150+7_*1150+10del
ENST00000684305.1:c.1974+7_1974+10del	ENSP00000506819.1:n.1974+7_1974+10del
ENST00000684415.1:c.*1084_*1087del	ENSP00000507227.1:n.*1084_*1087del
ENST00000684520.1:c.*792_*795del	ENSP00000506826.1:n.*792_*795del
ENST00000684602.1:c.*1192+7_*1192+10del	ENSP00000507996.1:n.*1192+7_*1192+10del
ENST00000684667.1:c.1857+7_1857+10del	ENSP00000507003.1:n.1857+7_1857+10del
ENST00000268097.10:c.1526+7_1526+10del MANE Select	ENSP00000268097.6:n.1526+7_1526+10del
ENST00000268097.9:c.1526+7_1526+10del	ENSP00000268097.5:n.1526+7_1526+10del
ENST00000379915.4:c.608+7_608+10del	ENSP00000478716.1:n.608+7_608+10del
ENST00000564677.5:n.318+7_318+10del
ENST00000565873.1:n.437+7_437+10del
ENST00000566304.5:c.1559+7_1559+10del	ENSP00000455114.1:n.1559+7_1559+10del
ENST00000567027.5:c.1148_1151del
ENST00000567159.5:c.*3_*6del	ENSP00000456489.1:n.*3_*6del
ENST00000567411.5:c.*1047+7_*1047+10del	ENSP00000455545.1:n.*1047+7_*1047+10del
ENST00000568777.5:n.6753_6756del
ENST00000569116.1:n.240_243del
NM_000520.4:c.1526+7_1526+10del	NP_000511.2:n.1526+7_1526+10del
NM_000520.5:c.1526+7_1526+10del	NP_000511.2:n.1526+7_1526+10del
NM_001318825.1:c.1559+7_1559+10del	NP_001305754.1:n.1559+7_1559+10del
NR_134869.1:n.1777_1780del
NM_000520.6:c.1526+7_1526+10del MANE Select	NP_000511.2:n.1526+7_1526+10del
NM_001318825.2:c.1559+7_1559+10del	NP_001305754.1:n.1559+7_1559+10del
NR_134869.2:n.1318_1321del
NR_134869.3:n.1318_1321del