Canonical Allele Identifier: CA2499223752

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048422
• ClinVar RCV Id: RCV001578524
• dbSNP Id: rs2143001135

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835248del , CM000678.2:g.88835248del	GRCh38
NC_000016.9:g.88901656del , CM000678.1:g.88901656del	GRCh37
NC_000016.8:g.87429157del	NCBI36
NG_008667.1:g.26719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.863del MANE Select	ENSP00000268695.5:p.Asp288AlafsTer?
ENST00000268695.9:c.863del	ENSP00000268695.5:p.Asp288AlafsTer?
ENST00000562593.5:n.4272del
ENST00000562931.5:n.451del
ENST00000567525.5:c.544del	ENSP00000454484.1:n.544del
ENST00000568613.5:c.982del	ENSP00000457921.1:n.982del
NM_000512.4:c.863del	NP_000503.1:p.Asp288AlafsTer?
XM_005256301.2:c.863del	XP_005256358.1:p.Asp288AlafsTer?
XM_005256302.1:c.881del	XP_005256359.1:p.Asp294AlafsTer?
XM_011522982.1:c.881del	XP_011521284.1:p.Asp294AlafsTer?
XM_011522984.1:c.881del	XP_011521286.1:p.Asp294AlafsTer?
NM_001323543.1:c.308del	NP_001310472.1:p.Asp103AlafsTer?
NM_001323544.1:c.881del	NP_001310473.1:p.Asp294AlafsTer?
XM_005256301.3:c.863del	XP_005256358.1:p.Asp288AlafsTer?
XM_011522982.2:c.881del	XP_011521284.1:p.Asp294AlafsTer?
XM_017023111.2:c.881del	XP_016878600.1:p.Asp294AlafsTer?
XM_017023112.2:c.881del	XP_016878601.1:p.Asp294AlafsTer?
XM_017023113.1:c.308del	XP_016878602.1:p.Asp103AlafsTer?
NM_000512.5:c.863del MANE Select	NP_000503.1:p.Asp288AlafsTer?
NM_001323543.2:c.308del	NP_001310472.1:p.Asp103AlafsTer?
NM_001323544.2:c.881del	NP_001310473.1:p.Asp294AlafsTer?