Canonical Allele Identifier: CA2241324547

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835255_88835258delinsTGAA , CM000678.2:g.88835255_88835258delinsTGAA	GRCh38
NC_000016.9:g.88901663_88901666delinsTGAA , CM000678.1:g.88901663_88901666delinsTGAA	GRCh37
NC_000016.8:g.87429164_87429167delinsTGAA	NCBI36
NG_008667.1:g.26709_26712delinsTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.853_856delinsTTCA MANE Select	ENSP00000268695.5:p.Phe285=
ENST00000268695.9:c.853_856delinsTTCA	ENSP00000268695.5:p.Phe285=
ENST00000562593.5:n.4262_4265delinsTTCA
ENST00000562931.5:n.441_444delinsTTCA
ENST00000567525.5:c.534_537delinsTTCA	ENSP00000454484.1:n.534_537delinsTTCA
ENST00000568613.5:c.972_975delinsTTCA	ENSP00000457921.1:n.972_975delinsTTCA
NM_000512.4:c.853_856delinsTTCA	NP_000503.1:p.Phe285=
XM_005256301.2:c.853_856delinsTTCA	XP_005256358.1:p.Phe285=
XM_005256302.1:c.871_874delinsTTCA	XP_005256359.1:p.Phe291=
XM_011522982.1:c.871_874delinsTTCA	XP_011521284.1:p.Phe291=
XM_011522984.1:c.871_874delinsTTCA	XP_011521286.1:p.Phe291=
NM_001323543.1:c.298_301delinsTTCA	NP_001310472.1:p.Phe100=
NM_001323544.1:c.871_874delinsTTCA	NP_001310473.1:p.Phe291=
XM_005256301.3:c.853_856delinsTTCA	XP_005256358.1:p.Phe285=
XM_011522982.2:c.871_874delinsTTCA	XP_011521284.1:p.Phe291=
XM_017023111.2:c.871_874delinsTTCA	XP_016878600.1:p.Phe291=
XM_017023112.2:c.871_874delinsTTCA	XP_016878601.1:p.Phe291=
XM_017023113.1:c.298_301delinsTTCA	XP_016878602.1:p.Phe100=
NM_000512.5:c.853_856delinsTTCA MANE Select	NP_000503.1:p.Phe285=
NM_001323543.2:c.298_301delinsTTCA	NP_001310472.1:p.Phe100=
NM_001323544.2:c.871_874delinsTTCA	NP_001310473.1:p.Phe291=