Canonical Allele Identifier: CA2580617893

Gene: GALNS

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841931dup , CM000678.2:g.88841931dup	GRCh38
NC_000016.9:g.88908339dup , CM000678.1:g.88908339dup	GRCh37
NC_000016.8:g.87435840dup	NCBI36
NG_008667.1:g.20036dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.285dup MANE Select	ENSP00000268695.5:p.Gly96TrpfsTer?
ENST00000268695.9:c.285dup	ENSP00000268695.5:p.Gly96TrpfsTer?
ENST00000562593.5:n.3694dup
ENST00000562831.1:c.69dup	ENSP00000455174.1:p.Gly24TrpfsTer?
ENST00000565364.1:n.420dup
ENST00000567525.5:c.110dup	ENSP00000454484.1:p.Met37IlefsTer?
ENST00000567779.1:n.115dup
ENST00000568613.5:c.404dup	ENSP00000457921.1:n.404dup
NM_000512.4:c.285dup	NP_000503.1:p.Gly96TrpfsTer?
XM_005256301.2:c.285dup	XP_005256358.1:p.Gly96TrpfsTer?
XM_005256302.1:c.303dup	XP_005256359.1:p.Gly102TrpfsTer?
XM_011522982.1:c.303dup	XP_011521284.1:p.Gly102TrpfsTer?
XM_011522984.1:c.303dup	XP_011521286.1:p.Gly102TrpfsTer?
NM_001323543.1:c.-271dup	NP_001310472.1:n.-271dup
NM_001323544.1:c.303dup	NP_001310473.1:p.Gly102TrpfsTer?
XM_005256301.3:c.285dup	XP_005256358.1:p.Gly96TrpfsTer?
XM_011522982.2:c.303dup	XP_011521284.1:p.Gly102TrpfsTer?
XM_017023111.2:c.303dup	XP_016878600.1:p.Gly102TrpfsTer?
XM_017023112.2:c.303dup	XP_016878601.1:p.Gly102TrpfsTer?
XM_017023113.1:c.-271dup	XP_016878602.1:n.-271dup
NM_000512.5:c.285dup MANE Select	NP_000503.1:p.Gly96TrpfsTer?
NM_001323543.2:c.-271dup	NP_001310472.1:n.-271dup
NM_001323544.2:c.303dup	NP_001310473.1:p.Gly102TrpfsTer?