Canonical Allele Identifier: CA272607582

Gene: HEXA

Linked Data

• dbSNP Id: rs922739871
• MyVariant Identifiers: chr15:g.72635794del (hg19) ; chr15:g.72343453del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343455del , CM000677.2:g.72343455del	GRCh38
NC_000015.9:g.72635796del , CM000677.1:g.72635796del	GRCh37
NC_000015.8:g.70422850del	NCBI36
NG_009017.1:g.37727del
NG_009017.2:g.37727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683243.1:c.*1367del	ENSP00000507042.1:n.*1367del
ENST00000683853.1:c.*2324del	ENSP00000506834.1:n.*2324del
ENST00000684263.1:c.*1838del	ENSP00000508369.1:n.*1838del
ENST00000268097.10:c.*624del MANE Select	ENSP00000268097.6:n.*624del
ENST00000268097.9:c.*624del	ENSP00000268097.5:n.*624del
ENST00000379915.4:c.608+1993del	ENSP00000478716.1:n.608+1993del
NM_000520.4:c.*624del	NP_000511.2:n.*624del
NM_000520.5:c.*624del	NP_000511.2:n.*624del
NM_001318825.1:c.*624del	NP_001305754.1:n.*624del
NM_000520.6:c.*624del MANE Select	NP_000511.2:n.*624del
NM_001318825.2:c.*624del	NP_001305754.1:n.*624del