Canonical Allele Identifier: CA2241324750

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835599_88835600delinsAG , CM000678.2:g.88835599_88835600delinsAG	GRCh38
NC_000016.9:g.88902007_88902008delinsAG , CM000678.1:g.88902007_88902008delinsAG	GRCh37
NC_000016.8:g.87429508_87429509delinsAG	NCBI36
NG_008667.1:g.26367_26368delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.758+125_758+126delinsCT MANE Select	ENSP00000268695.5:n.758+125_758+126delinsCT
ENST00000268695.9:c.758+125_758+126delinsCT	ENSP00000268695.5:n.758+125_758+126delinsCT
ENST00000562593.5:n.4167+125_4167+126delinsCT
ENST00000562931.5:n.346+125_346+126delinsCT
ENST00000567525.5:c.439+125_439+126delinsCT	ENSP00000454484.1:n.439+125_439+126delinsCT
ENST00000568613.5:c.877+125_877+126delinsCT	ENSP00000457921.1:n.877+125_877+126delinsCT
NM_000512.4:c.758+125_758+126delinsCT	NP_000503.1:n.758+125_758+126delinsCT
XM_005256301.2:c.758+125_758+126delinsCT	XP_005256358.1:n.758+125_758+126delinsCT
XM_005256302.1:c.776+125_776+126delinsCT	XP_005256359.1:n.776+125_776+126delinsCT
XM_011522982.1:c.776+125_776+126delinsCT	XP_011521284.1:n.776+125_776+126delinsCT
XM_011522984.1:c.776+125_776+126delinsCT	XP_011521286.1:n.776+125_776+126delinsCT
NM_001323543.1:c.203+125_203+126delinsCT	NP_001310472.1:n.203+125_203+126delinsCT
NM_001323544.1:c.776+125_776+126delinsCT	NP_001310473.1:n.776+125_776+126delinsCT
XM_005256301.3:c.758+125_758+126delinsCT	XP_005256358.1:n.758+125_758+126delinsCT
XM_011522982.2:c.776+125_776+126delinsCT	XP_011521284.1:n.776+125_776+126delinsCT
XM_017023111.2:c.776+125_776+126delinsCT	XP_016878600.1:n.776+125_776+126delinsCT
XM_017023112.2:c.776+125_776+126delinsCT	XP_016878601.1:n.776+125_776+126delinsCT
XM_017023113.1:c.203+125_203+126delinsCT	XP_016878602.1:n.203+125_203+126delinsCT
NM_000512.5:c.758+125_758+126delinsCT MANE Select	NP_000503.1:n.758+125_758+126delinsCT
NM_001323543.2:c.203+125_203+126delinsCT	NP_001310472.1:n.203+125_203+126delinsCT
NM_001323544.2:c.776+125_776+126delinsCT	NP_001310473.1:n.776+125_776+126delinsCT