Canonical Allele Identifier: CA715469398

Gene: HEXA

Linked Data

• dbSNP Id: rs1191032470
• gnomAD v4: 15-72343546-TG-T
• MyVariant Identifiers: chr15:g.72635888del (hg19) ; chr15:g.72343547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343551del , CM000677.2:g.72343551del	GRCh38
NC_000015.9:g.72635892del , CM000677.1:g.72635892del	GRCh37
NC_000015.8:g.70422946del	NCBI36
NG_009017.1:g.37633del
NG_009017.2:g.37633del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2347del
ENST00000682235.1:n.2143del
ENST00000682461.1:c.2226del	ENSP00000507308.1:n.2226del
ENST00000682653.1:n.4429del
ENST00000682721.1:c.*1923del	ENSP00000507535.1:n.*1923del
ENST00000682843.1:c.*1761del	ENSP00000508173.1:n.*1761del
ENST00000683133.1:c.2304del	ENSP00000508108.1:n.2304del
ENST00000683243.1:c.*1273del	ENSP00000507042.1:n.*1273del
ENST00000683463.1:c.*1609del	ENSP00000507986.1:n.*1609del
ENST00000683548.1:n.2578del
ENST00000683579.1:c.*2018del	ENSP00000506867.1:n.*2018del
ENST00000683587.1:n.2651del
ENST00000683735.1:c.*2518del	ENSP00000508336.1:n.*2518del
ENST00000683853.1:c.*2230del	ENSP00000506834.1:n.*2230del
ENST00000684125.1:c.*780del	ENSP00000507320.1:n.*780del
ENST00000684203.1:n.4569del
ENST00000684231.1:c.*1530del	ENSP00000507748.1:n.*1530del
ENST00000684263.1:c.*1744del	ENSP00000508369.1:n.*1744del
ENST00000684305.1:c.2568del	ENSP00000506819.1:n.2568del
ENST00000684602.1:c.*1786del	ENSP00000507996.1:n.*1786del
ENST00000684667.1:c.2451del	ENSP00000507003.1:n.2451del
ENST00000268097.10:c.*530del MANE Select	ENSP00000268097.6:n.*530del
ENST00000268097.9:c.*530del	ENSP00000268097.5:n.*530del
ENST00000379915.4:c.608+1899del	ENSP00000478716.1:n.608+1899del
NM_000520.4:c.*530del	NP_000511.2:n.*530del
NM_000520.5:c.*530del	NP_000511.2:n.*530del
NM_001318825.1:c.*530del	NP_001305754.1:n.*530del
NM_000520.6:c.*530del MANE Select	NP_000511.2:n.*530del
NM_001318825.2:c.*530del	NP_001305754.1:n.*530del