Canonical Allele Identifier: CA2241318673

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826381_88826383delinsCAG , CM000678.2:g.88826381_88826383delinsCAG	GRCh38
NC_000016.9:g.88892789_88892791delinsCAG , CM000678.1:g.88892789_88892791delinsCAG	GRCh37
NC_000016.8:g.87420290_87420292delinsCAG	NCBI36
NG_008667.1:g.35584_35586delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+319_1139+321delinsCTG MANE Select	ENSP00000268695.5:n.1139+319_1139+321delinsCTG
ENST00000268695.9:c.1139+319_1139+321delinsCTG	ENSP00000268695.5:n.1139+319_1139+321delinsCTG
ENST00000562593.5:n.4548+319_4548+321delinsCTG
ENST00000564263.1:n.415+319_415+321delinsCTG
ENST00000567525.5:c.820+319_820+321delinsCTG	ENSP00000454484.1:n.820+319_820+321delinsCTG
ENST00000568613.5:c.1258+319_1258+321delinsCTG	ENSP00000457921.1:n.1258+319_1258+321delinsCTG
NM_000512.4:c.1139+319_1139+321delinsCTG	NP_000503.1:n.1139+319_1139+321delinsCTG
XM_005256301.2:c.1139+319_1139+321delinsCTG	XP_005256358.1:n.1139+319_1139+321delinsCTG
XM_005256302.1:c.1157+319_1157+321delinsCTG	XP_005256359.1:n.1157+319_1157+321delinsCTG
XM_011522982.1:c.1157+319_1157+321delinsCTG	XP_011521284.1:n.1157+319_1157+321delinsCTG
XM_011522984.1:c.1157+319_1157+321delinsCTG	XP_011521286.1:n.1157+319_1157+321delinsCTG
NM_001323543.1:c.584+319_584+321delinsCTG	NP_001310472.1:n.584+319_584+321delinsCTG
NM_001323544.1:c.1157+319_1157+321delinsCTG	NP_001310473.1:n.1157+319_1157+321delinsCTG
XM_005256301.3:c.1139+319_1139+321delinsCTG	XP_005256358.1:n.1139+319_1139+321delinsCTG
XM_011522982.2:c.1157+319_1157+321delinsCTG	XP_011521284.1:n.1157+319_1157+321delinsCTG
XM_017023111.2:c.1157+319_1157+321delinsCTG	XP_016878600.1:n.1157+319_1157+321delinsCTG
XM_017023112.2:c.1157+319_1157+321delinsCTG	XP_016878601.1:n.1157+319_1157+321delinsCTG
XM_017023113.1:c.584+319_584+321delinsCTG	XP_016878602.1:n.584+319_584+321delinsCTG
NM_000512.5:c.1139+319_1139+321delinsCTG MANE Select	NP_000503.1:n.1139+319_1139+321delinsCTG
NM_001323543.2:c.584+319_584+321delinsCTG	NP_001310472.1:n.584+319_584+321delinsCTG
NM_001323544.2:c.1157+319_1157+321delinsCTG	NP_001310473.1:n.1157+319_1157+321delinsCTG