Canonical Allele Identifier: CA3000725780

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818083dup , CM000678.2:g.88818083dup	GRCh38
NC_000016.9:g.88884491dup , CM000678.1:g.88884491dup	GRCh37
NC_000016.8:g.87411992dup	NCBI36
NG_008667.1:g.43885dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1407dup MANE Select	NP_000503.1:p.Ser470LeufsTer?
ENST00000268695.10:c.1407dup MANE Select	ENSP00000268695.5:p.Ser470LeufsTer?
NM_000512.4:c.1407dup	NP_000503.1:p.Ser470LeufsTer?
NM_001323543.1:c.852dup	NP_001310472.1:p.Ser285LeufsTer?
NM_001323543.2:c.852dup	NP_001310472.1:p.Ser285LeufsTer?
NM_001323544.1:c.1425dup	NP_001310473.1:p.Ser476LeufsTer?
NM_001323544.2:c.1425dup	NP_001310473.1:p.Ser476LeufsTer?
ENST00000268695.9:c.1407dup	ENSP00000268695.5:p.Ser470LeufsTer?
ENST00000562593.5:n.4816dup
ENST00000567525.5:c.1088dup	ENSP00000454484.1:n.1088dup
ENST00000568613.5:c.1526dup	ENSP00000457921.1:n.1526dup
XM_005256301.2:c.1407dup	XP_005256358.1:p.Ser470LeufsTer?
XM_005256301.3:c.1407dup	XP_005256358.1:p.Ser470LeufsTer?
XM_005256302.1:c.1425dup	XP_005256359.1:p.Ser476LeufsTer?
XM_011522982.1:c.1425dup	XP_011521284.1:p.Ser476LeufsTer?
XM_011522982.2:c.1425dup	XP_011521284.1:p.Ser476LeufsTer?
XM_011522984.1:c.1425dup	XP_011521286.1:p.Ser476LeufsTer?
XM_017023111.2:c.1425dup	XP_016878600.1:p.Ser476LeufsTer29
XM_017023112.2:c.1425dup	XP_016878601.1:p.Ser476LeufsTer?
XM_017023113.1:c.852dup	XP_016878602.1:p.Ser285LeufsTer?