Canonical Allele Identifier: CA2527322622

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88824842_88824853del , CM000678.2:g.88824842_88824853del	GRCh38
NC_000016.9:g.88891250_88891261del , CM000678.1:g.88891250_88891261del	GRCh37
NC_000016.8:g.87418751_87418762del	NCBI36
NG_008667.1:g.37115_37126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1157_1168del MANE Select	ENSP00000268695.5:p.Arg386_Thr389del
ENST00000268695.9:c.1157_1168del	ENSP00000268695.5:p.Arg386_Thr389del
ENST00000562593.5:n.4566_4577del
ENST00000564263.1:n.433_444del
ENST00000567525.5:c.838_849del	ENSP00000454484.1:n.838_849del
ENST00000568613.5:c.1276_1287del	ENSP00000457921.1:n.1276_1287del
NM_000512.4:c.1157_1168del	NP_000503.1:p.Arg386_Thr389del
XM_005256301.2:c.1157_1168del	XP_005256358.1:p.Arg386_Thr389del
XM_005256302.1:c.1175_1186del	XP_005256359.1:p.Arg392_Thr395del
XM_011522982.1:c.1175_1186del	XP_011521284.1:p.Arg392_Thr395del
XM_011522984.1:c.1175_1186del	XP_011521286.1:p.Arg392_Thr395del
NM_001323543.1:c.602_613del	NP_001310472.1:p.Arg201_Thr204del
NM_001323544.1:c.1175_1186del	NP_001310473.1:p.Arg392_Thr395del
XM_005256301.3:c.1157_1168del	XP_005256358.1:p.Arg386_Thr389del
XM_011522982.2:c.1175_1186del	XP_011521284.1:p.Arg392_Thr395del
XM_017023111.2:c.1175_1186del	XP_016878600.1:p.Arg392_Thr395del
XM_017023112.2:c.1175_1186del	XP_016878601.1:p.Arg392_Thr395del
XM_017023113.1:c.602_613del	XP_016878602.1:p.Arg201_Thr204del
NM_000512.5:c.1157_1168del MANE Select	NP_000503.1:p.Arg386_Thr389del
NM_001323543.2:c.602_613del	NP_001310472.1:p.Arg201_Thr204del
NM_001323544.2:c.1175_1186del	NP_001310473.1:p.Arg392_Thr395del