Canonical Allele Identifier: CA2580092237

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835277del , CM000678.2:g.88835277del	GRCh38
NC_000016.9:g.88901685del , CM000678.1:g.88901685del	GRCh37
NC_000016.8:g.87429186del	NCBI36
NG_008667.1:g.26691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.835del MANE Select	ENSP00000268695.5:p.Asp279ThrfsTer?
ENST00000268695.9:c.835del	ENSP00000268695.5:p.Asp279ThrfsTer?
ENST00000562593.5:n.4244del
ENST00000562931.5:n.423del
ENST00000567525.5:c.516del	ENSP00000454484.1:n.516del
ENST00000568613.5:c.954del	ENSP00000457921.1:n.954del
NM_000512.4:c.835del	NP_000503.1:p.Asp279ThrfsTer?
XM_005256301.2:c.835del	XP_005256358.1:p.Asp279ThrfsTer?
XM_005256302.1:c.853del	XP_005256359.1:p.Asp285ThrfsTer?
XM_011522982.1:c.853del	XP_011521284.1:p.Asp285ThrfsTer?
XM_011522984.1:c.853del	XP_011521286.1:p.Asp285ThrfsTer?
NM_001323543.1:c.280del	NP_001310472.1:p.Asp94ThrfsTer?
NM_001323544.1:c.853del	NP_001310473.1:p.Asp285ThrfsTer?
XM_005256301.3:c.835del	XP_005256358.1:p.Asp279ThrfsTer?
XM_011522982.2:c.853del	XP_011521284.1:p.Asp285ThrfsTer?
XM_017023111.2:c.853del	XP_016878600.1:p.Asp285ThrfsTer?
XM_017023112.2:c.853del	XP_016878601.1:p.Asp285ThrfsTer?
XM_017023113.1:c.280del	XP_016878602.1:p.Asp94ThrfsTer?
NM_000512.5:c.835del MANE Select	NP_000503.1:p.Asp279ThrfsTer?
NM_001323543.2:c.280del	NP_001310472.1:p.Asp94ThrfsTer?
NM_001323544.2:c.853del	NP_001310473.1:p.Asp285ThrfsTer?