Canonical Allele Identifier: CA915941056

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048477
• ClinVar RCV Id: RCV001578580
• dbSNP Id: rs2143001121

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835237del , CM000678.2:g.88835237del	GRCh38
NC_000016.9:g.88901645del , CM000678.1:g.88901645del	GRCh37
NC_000016.8:g.87429146del	NCBI36
NG_008667.1:g.26730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.874del MANE Select	ENSP00000268695.5:p.Ala292ProfsTer27
ENST00000268695.9:c.874del	ENSP00000268695.5:p.Ala292ProfsTer27
ENST00000562593.5:n.4283del
ENST00000562931.5:n.462del
ENST00000567525.5:c.555del	ENSP00000454484.1:n.555del
ENST00000568613.5:c.993del	ENSP00000457921.1:n.993del
NM_000512.4:c.874del	NP_000503.1:p.Ala292ProfsTer27
XM_005256301.2:c.874del	XP_005256358.1:p.Ala292ProfsTer27
XM_005256302.1:c.892del	XP_005256359.1:p.Ala298ProfsTer27
XM_011522982.1:c.892del	XP_011521284.1:p.Ala298ProfsTer27
XM_011522984.1:c.892del	XP_011521286.1:p.Ala298ProfsTer27
NM_001323543.1:c.319del	NP_001310472.1:p.Ala107ProfsTer27
NM_001323544.1:c.892del	NP_001310473.1:p.Ala298ProfsTer27
XM_005256301.3:c.874del	XP_005256358.1:p.Ala292ProfsTer27
XM_011522982.2:c.892del	XP_011521284.1:p.Ala298ProfsTer27
XM_017023111.2:c.892del	XP_016878600.1:p.Ala298ProfsTer27
XM_017023112.2:c.892del	XP_016878601.1:p.Ala298ProfsTer27
XM_017023113.1:c.319del	XP_016878602.1:p.Ala107ProfsTer27
NM_000512.5:c.874del MANE Select	NP_000503.1:p.Ala292ProfsTer27
NM_001323543.2:c.319del	NP_001310472.1:p.Ala107ProfsTer27
NM_001323544.2:c.892del	NP_001310473.1:p.Ala298ProfsTer27