Canonical Allele Identifier: CA2186743166

Gene: HEXA

Linked Data

• dbSNP Id: rs1846826552
• gnomAD v4: 15-72345282-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345284del , CM000677.2:g.72345284del	GRCh38
NC_000015.9:g.72637625del , CM000677.1:g.72637625del	GRCh37
NC_000015.8:g.70424679del	NCBI36
NG_009017.1:g.35897del
NG_009017.2:g.35897del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*349del	ENSP00000457521.2:n.*349del
ENST00000682061.1:c.*2035del	ENSP00000508316.1:n.*2035del
ENST00000682064.1:n.1753+163del
ENST00000682177.1:c.1732del	ENSP00000507409.1:n.1732del
ENST00000682235.1:n.1549+163del
ENST00000682461.1:c.1632+163del	ENSP00000507308.1:n.1632+163del
ENST00000682653.1:n.2693del
ENST00000682657.1:c.*1526del	ENSP00000507753.1:n.*1526del
ENST00000682721.1:c.*1329+163del	ENSP00000507535.1:n.*1329+163del
ENST00000682843.1:c.*1167+163del	ENSP00000508173.1:n.*1167+163del
ENST00000683133.1:c.1710+163del	ENSP00000508108.1:n.1710+163del
ENST00000683243.1:c.*679+163del	ENSP00000507042.1:n.*679+163del
ENST00000683463.1:c.*1015+163del	ENSP00000507986.1:n.*1015+163del
ENST00000683548.1:n.1984+163del
ENST00000683579.1:c.*1424+163del	ENSP00000506867.1:n.*1424+163del
ENST00000683587.1:n.2057+163del
ENST00000683681.1:c.*204+163del	ENSP00000508110.1:n.*204+163del
ENST00000683735.1:c.*1924+163del	ENSP00000508336.1:n.*1924+163del
ENST00000683853.1:c.*494del	ENSP00000506834.1:n.*494del
ENST00000683860.1:c.*646+163del	ENSP00000507179.1:n.*646+163del
ENST00000683884.1:c.*1016del	ENSP00000507004.1:n.*1016del
ENST00000684125.1:c.*186+163del	ENSP00000507320.1:n.*186+163del
ENST00000684203.1:n.3975+163del
ENST00000684231.1:c.*936+163del	ENSP00000507748.1:n.*936+163del
ENST00000684263.1:c.*1150+163del	ENSP00000508369.1:n.*1150+163del
ENST00000684305.1:c.1974+163del	ENSP00000506819.1:n.1974+163del
ENST00000684415.1:c.*1240del	ENSP00000507227.1:n.*1240del
ENST00000684520.1:c.*948del	ENSP00000506826.1:n.*948del
ENST00000684602.1:c.*1192+163del	ENSP00000507996.1:n.*1192+163del
ENST00000684667.1:c.1857+163del	ENSP00000507003.1:n.1857+163del
ENST00000268097.10:c.1526+163del MANE Select	ENSP00000268097.6:n.1526+163del
ENST00000268097.9:c.1526+163del	ENSP00000268097.5:n.1526+163del
ENST00000379915.4:c.608+163del	ENSP00000478716.1:n.608+163del
ENST00000564677.5:n.318+163del
ENST00000565873.1:n.437+163del
ENST00000566304.5:c.1559+163del	ENSP00000455114.1:n.1559+163del
ENST00000567027.5:c.1304del
ENST00000567411.5:c.*1047+163del	ENSP00000455545.1:n.*1047+163del
ENST00000568777.5:n.6909del
ENST00000569116.1:n.396del
NM_000520.4:c.1526+163del	NP_000511.2:n.1526+163del
NM_000520.5:c.1526+163del	NP_000511.2:n.1526+163del
NM_001318825.1:c.1559+163del	NP_001305754.1:n.1559+163del
NR_134869.1:n.1933del
NM_000520.6:c.1526+163del MANE Select	NP_000511.2:n.1526+163del
NM_001318825.2:c.1559+163del	NP_001305754.1:n.1559+163del
NR_134869.2:n.1474del
NR_134869.3:n.1474del