Canonical Allele Identifier: CA2841281048

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818061del , CM000678.2:g.88818061del	GRCh38
NC_000016.9:g.88884469del , CM000678.1:g.88884469del	GRCh37
NC_000016.8:g.87411970del	NCBI36
NG_008667.1:g.43907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1429del MANE Select	ENSP00000268695.5:p.Glu477ArgfsTer18
ENST00000268695.9:c.1429del	ENSP00000268695.5:p.Glu477ArgfsTer18
ENST00000562593.5:n.4838del
ENST00000567525.5:c.1110del	ENSP00000454484.1:n.1110del
ENST00000568613.5:c.1548del	ENSP00000457921.1:n.1548del
NM_000512.4:c.1429del	NP_000503.1:p.Glu477ArgfsTer18
XM_005256301.2:c.1429del	XP_005256358.1:p.Glu477ArgfsTer?
XM_005256302.1:c.1447del	XP_005256359.1:p.Glu483ArgfsTer18
XM_011522982.1:c.1447del	XP_011521284.1:p.Glu483ArgfsTer?
XM_011522984.1:c.1447del	XP_011521286.1:p.Glu483ArgfsTer?
NM_001323543.1:c.874del	NP_001310472.1:p.Glu292ArgfsTer18
NM_001323544.1:c.1447del	NP_001310473.1:p.Glu483ArgfsTer18
XM_005256301.3:c.1429del	XP_005256358.1:p.Glu477ArgfsTer?
XM_011522982.2:c.1447del	XP_011521284.1:p.Glu483ArgfsTer?
XM_017023111.2:c.1447del	XP_016878600.1:p.Glu483ArgfsTer?
XM_017023112.2:c.1447del	XP_016878601.1:p.Glu483ArgfsTer?
XM_017023113.1:c.874del	XP_016878602.1:p.Glu292ArgfsTer?
NM_000512.5:c.1429del MANE Select	NP_000503.1:p.Glu477ArgfsTer18
NM_001323543.2:c.874del	NP_001310472.1:p.Glu292ArgfsTer18
NM_001323544.2:c.1447del	NP_001310473.1:p.Glu483ArgfsTer18