Canonical Allele Identifier: CA971350427

Gene: HEXA

Linked Data

• dbSNP Id: rs2088571993
• gnomAD v3: 15-72343445-AAT-A
• gnomAD v4: 15-72343445-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343448_72343449del , CM000677.2:g.72343448_72343449del	GRCh38
NC_000015.9:g.72635789_72635790del , CM000677.1:g.72635789_72635790del	GRCh37
NC_000015.8:g.70422843_70422844del	NCBI36
NG_009017.1:g.37733_37734del
NG_009017.2:g.37733_37734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683243.1:c.*1373_*1374del	ENSP00000507042.1:n.*1373_*1374del
ENST00000684263.1:c.*1844_*1845del	ENSP00000508369.1:n.*1844_*1845del
ENST00000268097.10:c.*630_*631del MANE Select	ENSP00000268097.6:n.*630_*631del
ENST00000268097.9:c.*630_*631del	ENSP00000268097.5:n.*630_*631del
ENST00000379915.4:c.608+1999_608+2000del	ENSP00000478716.1:n.608+1999_608+2000del
NM_000520.4:c.*630_*631del	NP_000511.2:n.*630_*631del
NM_000520.5:c.*630_*631del	NP_000511.2:n.*630_*631del
NM_001318825.1:c.*630_*631del	NP_001305754.1:n.*630_*631del
NM_000520.6:c.*630_*631del MANE Select	NP_000511.2:n.*630_*631del
NM_001318825.2:c.*630_*631del	NP_001305754.1:n.*630_*631del