Canonical Allele Identifier: CA2839668322

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835190del , CM000678.2:g.88835190del	GRCh38
NC_000016.9:g.88901598del , CM000678.1:g.88901598del	GRCh37
NC_000016.8:g.87429099del	NCBI36
NG_008667.1:g.26777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.898+23del MANE Select	ENSP00000268695.5:n.898+23del
ENST00000268695.9:c.898+23del	ENSP00000268695.5:n.898+23del
ENST00000562593.5:n.4307+23del
ENST00000562931.5:n.486+23del
ENST00000567525.5:c.579+23del	ENSP00000454484.1:n.579+23del
ENST00000568613.5:c.1017+23del	ENSP00000457921.1:n.1017+23del
NM_000512.4:c.898+23del	NP_000503.1:n.898+23del
XM_005256301.2:c.898+23del	XP_005256358.1:n.898+23del
XM_005256302.1:c.916+23del	XP_005256359.1:n.916+23del
XM_011522982.1:c.916+23del	XP_011521284.1:n.916+23del
XM_011522984.1:c.916+23del	XP_011521286.1:n.916+23del
NM_001323543.1:c.343+23del	NP_001310472.1:n.343+23del
NM_001323544.1:c.916+23del	NP_001310473.1:n.916+23del
XM_005256301.3:c.898+23del	XP_005256358.1:n.898+23del
XM_011522982.2:c.916+23del	XP_011521284.1:n.916+23del
XM_017023111.2:c.916+23del	XP_016878600.1:n.916+23del
XM_017023112.2:c.916+23del	XP_016878601.1:n.916+23del
XM_017023113.1:c.343+23del	XP_016878602.1:n.343+23del
NM_000512.5:c.898+23del MANE Select	NP_000503.1:n.898+23del
NM_001323543.2:c.343+23del	NP_001310472.1:n.343+23del
NM_001323544.2:c.916+23del	NP_001310473.1:n.916+23del