Canonical Allele Identifier: CA2241324530

Gene: GALNS

Linked Data

• dbSNP Id: rs1911990702
• gnomAD v4: 16-88835227-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835230del , CM000678.2:g.88835230del	GRCh38
NC_000016.9:g.88901638del , CM000678.1:g.88901638del	GRCh37
NC_000016.8:g.87429139del	NCBI36
NG_008667.1:g.26739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.883del MANE Select	ENSP00000268695.5:p.Ser295ProfsTer24
ENST00000268695.9:c.883del	ENSP00000268695.5:p.Ser295ProfsTer24
ENST00000562593.5:n.4292del
ENST00000562931.5:n.471del
ENST00000567525.5:c.564del	ENSP00000454484.1:n.564del
ENST00000568613.5:c.1002del	ENSP00000457921.1:n.1002del
NM_000512.4:c.883del	NP_000503.1:p.Ser295ProfsTer24
XM_005256301.2:c.883del	XP_005256358.1:p.Ser295ProfsTer24
XM_005256302.1:c.901del	XP_005256359.1:p.Ser301ProfsTer24
XM_011522982.1:c.901del	XP_011521284.1:p.Ser301ProfsTer24
XM_011522984.1:c.901del	XP_011521286.1:p.Ser301ProfsTer24
NM_001323543.1:c.328del	NP_001310472.1:p.Ser110ProfsTer24
NM_001323544.1:c.901del	NP_001310473.1:p.Ser301ProfsTer24
XM_005256301.3:c.883del	XP_005256358.1:p.Ser295ProfsTer24
XM_011522982.2:c.901del	XP_011521284.1:p.Ser301ProfsTer24
XM_017023111.2:c.901del	XP_016878600.1:p.Ser301ProfsTer24
XM_017023112.2:c.901del	XP_016878601.1:p.Ser301ProfsTer24
XM_017023113.1:c.328del	XP_016878602.1:p.Ser110ProfsTer24
NM_000512.5:c.883del MANE Select	NP_000503.1:p.Ser295ProfsTer24
NM_001323543.2:c.328del	NP_001310472.1:p.Ser110ProfsTer24
NM_001323544.2:c.901del	NP_001310473.1:p.Ser301ProfsTer24