Canonical Allele Identifier: CA3000725774

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818073del , CM000678.2:g.88818073del	GRCh38
NC_000016.9:g.88884481del , CM000678.1:g.88884481del	GRCh37
NC_000016.8:g.87411982del	NCBI36
NG_008667.1:g.43895del

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1417del MANE Select	NP_000503.1:p.Gln473SerfsTer22
ENST00000268695.10:c.1417del MANE Select	ENSP00000268695.5:p.Gln473SerfsTer22
NM_000512.4:c.1417del	NP_000503.1:p.Gln473SerfsTer22
NM_001323543.1:c.862del	NP_001310472.1:p.Gln288SerfsTer22
NM_001323543.2:c.862del	NP_001310472.1:p.Gln288SerfsTer22
NM_001323544.1:c.1435del	NP_001310473.1:p.Gln479SerfsTer22
NM_001323544.2:c.1435del	NP_001310473.1:p.Gln479SerfsTer22
ENST00000268695.9:c.1417del	ENSP00000268695.5:p.Gln473SerfsTer22
ENST00000562593.5:n.4826del
ENST00000567525.5:c.1098del	ENSP00000454484.1:n.1098del
ENST00000568613.5:c.1536del	ENSP00000457921.1:n.1536del
XM_005256301.2:c.1417del	XP_005256358.1:p.Gln473SerfsTer?
XM_005256301.3:c.1417del	XP_005256358.1:p.Gln473SerfsTer?
XM_005256302.1:c.1435del	XP_005256359.1:p.Gln479SerfsTer22
XM_011522982.1:c.1435del	XP_011521284.1:p.Gln479SerfsTer?
XM_011522982.2:c.1435del	XP_011521284.1:p.Gln479SerfsTer?
XM_011522984.1:c.1435del	XP_011521286.1:p.Gln479SerfsTer?
XM_017023111.2:c.1435del	XP_016878600.1:p.Gln479SerfsTer?
XM_017023112.2:c.1435del	XP_016878601.1:p.Gln479SerfsTer?
XM_017023113.1:c.862del	XP_016878602.1:p.Gln288SerfsTer?