Canonical Allele Identifier: CA715470405

Gene: HEXA

Linked Data

• dbSNP Id: rs1201477126
• gnomAD v3: 15-72345244-ATTT-A
• gnomAD v4: 15-72345244-ATTT-A
• MyVariant Identifiers: chr15:g.72637586_72637588del (hg19) ; chr15:g.72345245_72345247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345248_72345250del , CM000677.2:g.72345248_72345250del	GRCh38
NC_000015.9:g.72637589_72637591del , CM000677.1:g.72637589_72637591del	GRCh37
NC_000015.8:g.70424643_70424645del	NCBI36
NG_009017.1:g.35933_35935del
NG_009017.2:g.35933_35935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*385_*387del	ENSP00000457521.2:n.*385_*387del
ENST00000682064.1:n.1753+199_1753+201del
ENST00000682235.1:n.1549+199_1549+201del
ENST00000682461.1:c.1632+199_1632+201del	ENSP00000507308.1:n.1632+199_1632+201del
ENST00000682653.1:n.2729_2731del
ENST00000682657.1:c.*1562_*1564del	ENSP00000507753.1:n.*1562_*1564del
ENST00000682721.1:c.*1329+199_*1329+201del	ENSP00000507535.1:n.*1329+199_*1329+201del
ENST00000682843.1:c.*1167+199_*1167+201del	ENSP00000508173.1:n.*1167+199_*1167+201del
ENST00000683133.1:c.1710+199_1710+201del	ENSP00000508108.1:n.1710+199_1710+201del
ENST00000683243.1:c.*679+199_*679+201del	ENSP00000507042.1:n.*679+199_*679+201del
ENST00000683463.1:c.*1015+199_*1015+201del	ENSP00000507986.1:n.*1015+199_*1015+201del
ENST00000683548.1:n.1984+199_1984+201del
ENST00000683579.1:c.*1424+199_*1424+201del	ENSP00000506867.1:n.*1424+199_*1424+201del
ENST00000683587.1:n.2057+199_2057+201del
ENST00000683681.1:c.*204+199_*204+201del	ENSP00000508110.1:n.*204+199_*204+201del
ENST00000683735.1:c.*1924+199_*1924+201del	ENSP00000508336.1:n.*1924+199_*1924+201del
ENST00000683853.1:c.*530_*532del	ENSP00000506834.1:n.*530_*532del
ENST00000683860.1:c.*646+199_*646+201del	ENSP00000507179.1:n.*646+199_*646+201del
ENST00000684125.1:c.*186+199_*186+201del	ENSP00000507320.1:n.*186+199_*186+201del
ENST00000684203.1:n.3975+199_3975+201del
ENST00000684231.1:c.*936+199_*936+201del	ENSP00000507748.1:n.*936+199_*936+201del
ENST00000684263.1:c.*1150+199_*1150+201del	ENSP00000508369.1:n.*1150+199_*1150+201del
ENST00000684305.1:c.1974+199_1974+201del	ENSP00000506819.1:n.1974+199_1974+201del
ENST00000684415.1:c.*1276_*1278del	ENSP00000507227.1:n.*1276_*1278del
ENST00000684520.1:c.*984_*986del	ENSP00000506826.1:n.*984_*986del
ENST00000684602.1:c.*1192+199_*1192+201del	ENSP00000507996.1:n.*1192+199_*1192+201del
ENST00000684667.1:c.1857+199_1857+201del	ENSP00000507003.1:n.1857+199_1857+201del
ENST00000268097.10:c.1526+199_1526+201del MANE Select	ENSP00000268097.6:n.1526+199_1526+201del
ENST00000268097.9:c.1526+199_1526+201del	ENSP00000268097.5:n.1526+199_1526+201del
ENST00000379915.4:c.608+199_608+201del	ENSP00000478716.1:n.608+199_608+201del
ENST00000564677.5:n.318+199_318+201del
ENST00000565873.1:n.437+199_437+201del
ENST00000566304.5:c.1559+199_1559+201del	ENSP00000455114.1:n.1559+199_1559+201del
ENST00000567027.5:c.1340_1342del
ENST00000567411.5:c.*1047+199_*1047+201del	ENSP00000455545.1:n.*1047+199_*1047+201del
ENST00000569116.1:n.432_434del
NM_000520.4:c.1526+199_1526+201del	NP_000511.2:n.1526+199_1526+201del
NM_000520.5:c.1526+199_1526+201del	NP_000511.2:n.1526+199_1526+201del
NM_001318825.1:c.1559+199_1559+201del	NP_001305754.1:n.1559+199_1559+201del
NR_134869.1:n.1969_1971del
NM_000520.6:c.1526+199_1526+201del MANE Select	NP_000511.2:n.1526+199_1526+201del
NM_001318825.2:c.1559+199_1559+201del	NP_001305754.1:n.1559+199_1559+201del
NR_134869.2:n.1510_1512del
NR_134869.3:n.1510_1512del