Canonical Allele Identifier: CA2629340643

Gene: HEXA

Linked Data

• gnomAD v4: 15-72346201-CCCAACCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346205_72346212del , CM000677.2:g.72346205_72346212del	GRCh38
NC_000015.9:g.72638546_72638553del , CM000677.1:g.72638546_72638553del	GRCh37
NC_000015.8:g.70425600_70425607del	NCBI36
NG_009017.1:g.34971_34978del
NG_009017.2:g.34971_34978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*81+26_*81+33del	ENSP00000457521.2:n.*81+26_*81+33del
ENST00000682061.1:c.*1109_*1116del	ENSP00000508316.1:n.*1109_*1116del
ENST00000682064.1:n.990_997del
ENST00000682177.1:c.1464+26_1464+33del	ENSP00000507409.1:n.1464+26_1464+33del
ENST00000682235.1:n.786_793del
ENST00000682461.1:c.1527+26_1527+33del	ENSP00000507308.1:n.1527+26_1527+33del
ENST00000682653.1:n.1767_1774del
ENST00000682657.1:c.*600_*607del	ENSP00000507753.1:n.*600_*607del
ENST00000682721.1:c.*1224+26_*1224+33del	ENSP00000507535.1:n.*1224+26_*1224+33del
ENST00000682843.1:c.*1062+26_*1062+33del	ENSP00000508173.1:n.*1062+26_*1062+33del
ENST00000683003.1:c.*600_*607del	ENSP00000507576.1:n.*600_*607del
ENST00000683133.1:c.1605+26_1605+33del	ENSP00000508108.1:n.1605+26_1605+33del
ENST00000683243.1:c.*574+26_*574+33del	ENSP00000507042.1:n.*574+26_*574+33del
ENST00000683463.1:c.*252_*259del	ENSP00000507986.1:n.*252_*259del
ENST00000683548.1:n.1221_1228del
ENST00000683579.1:c.*1319+26_*1319+33del	ENSP00000506867.1:n.*1319+26_*1319+33del
ENST00000683587.1:n.1294_1301del
ENST00000683681.1:c.1421+26_1421+33del	ENSP00000508110.1:n.1421+26_1421+33del
ENST00000683735.1:c.*1161_*1168del	ENSP00000508336.1:n.*1161_*1168del
ENST00000683853.1:c.*226+26_*226+33del	ENSP00000506834.1:n.*226+26_*226+33del
ENST00000683860.1:c.1421+26_1421+33del	ENSP00000507179.1:n.1421+26_1421+33del
ENST00000683884.1:c.*90_*97del	ENSP00000507004.1:n.*90_*97del
ENST00000684041.1:c.*22_*29del	ENSP00000508382.1:n.*22_*29del
ENST00000684125.1:c.*81+26_*81+33del	ENSP00000507320.1:n.*81+26_*81+33del
ENST00000684203.1:n.3212_3219del
ENST00000684231.1:c.*831+26_*831+33del	ENSP00000507748.1:n.*831+26_*831+33del
ENST00000684263.1:c.*387_*394del	ENSP00000508369.1:n.*387_*394del
ENST00000684305.1:c.1869+26_1869+33del	ENSP00000506819.1:n.1869+26_1869+33del
ENST00000684415.1:c.*314_*321del	ENSP00000507227.1:n.*314_*321del
ENST00000684520.1:c.*22_*29del	ENSP00000506826.1:n.*22_*29del
ENST00000684602.1:c.*1087+26_*1087+33del	ENSP00000507996.1:n.*1087+26_*1087+33del
ENST00000684667.1:c.1752+26_1752+33del	ENSP00000507003.1:n.1752+26_1752+33del
ENST00000268097.10:c.1421+26_1421+33del MANE Select	ENSP00000268097.6:n.1421+26_1421+33del
ENST00000268097.9:c.1421+26_1421+33del	ENSP00000268097.5:n.1421+26_1421+33del
ENST00000379915.4:c.503+26_503+33del	ENSP00000478716.1:n.503+26_503+33del
ENST00000563762.5:c.942_949del	ENSP00000456346.1:n.942_949del
ENST00000566304.5:c.1454+26_1454+33del	ENSP00000455114.1:n.1454+26_1454+33del
ENST00000566672.5:c.*857_*864del	ENSP00000457037.1:n.*857_*864del
ENST00000567027.5:c.1036+26_1036+33del
ENST00000567159.5:c.1421+26_1421+33del	ENSP00000456489.1:n.1421+26_1421+33del
ENST00000567411.5:c.*942+26_*942+33del	ENSP00000455545.1:n.*942+26_*942+33del
ENST00000568777.5:n.6641+26_6641+33del
NM_000520.4:c.1421+26_1421+33del	NP_000511.2:n.1421+26_1421+33del
NM_000520.5:c.1421+26_1421+33del	NP_000511.2:n.1421+26_1421+33del
NM_001318825.1:c.1454+26_1454+33del	NP_001305754.1:n.1454+26_1454+33del
NR_134869.1:n.1665+26_1665+33del
NM_000520.6:c.1421+26_1421+33del MANE Select	NP_000511.2:n.1421+26_1421+33del
NM_001318825.2:c.1454+26_1454+33del	NP_001305754.1:n.1454+26_1454+33del
NR_134869.2:n.1206+26_1206+33del
NR_134869.3:n.1206+26_1206+33del