Canonical Allele Identifier: CA2534569968

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826350_88826368del , CM000678.2:g.88826350_88826368del	GRCh38
NC_000016.9:g.88892758_88892776del , CM000678.1:g.88892758_88892776del	GRCh37
NC_000016.8:g.87420259_87420277del	NCBI36
NG_008667.1:g.35599_35617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+334_1139+352del MANE Select	ENSP00000268695.5:n.1139+334_1139+352del
ENST00000268695.9:c.1139+334_1139+352del	ENSP00000268695.5:n.1139+334_1139+352del
ENST00000562593.5:n.4548+334_4548+352del
ENST00000564263.1:n.415+334_415+352del
ENST00000567525.5:c.820+334_820+352del	ENSP00000454484.1:n.820+334_820+352del
ENST00000568613.5:c.1258+334_1258+352del	ENSP00000457921.1:n.1258+334_1258+352del
NM_000512.4:c.1139+334_1139+352del	NP_000503.1:n.1139+334_1139+352del
XM_005256301.2:c.1139+334_1139+352del	XP_005256358.1:n.1139+334_1139+352del
XM_005256302.1:c.1157+334_1157+352del	XP_005256359.1:n.1157+334_1157+352del
XM_011522982.1:c.1157+334_1157+352del	XP_011521284.1:n.1157+334_1157+352del
XM_011522984.1:c.1157+334_1157+352del	XP_011521286.1:n.1157+334_1157+352del
NM_001323543.1:c.584+334_584+352del	NP_001310472.1:n.584+334_584+352del
NM_001323544.1:c.1157+334_1157+352del	NP_001310473.1:n.1157+334_1157+352del
XM_005256301.3:c.1139+334_1139+352del	XP_005256358.1:n.1139+334_1139+352del
XM_011522982.2:c.1157+334_1157+352del	XP_011521284.1:n.1157+334_1157+352del
XM_017023111.2:c.1157+334_1157+352del	XP_016878600.1:n.1157+334_1157+352del
XM_017023112.2:c.1157+334_1157+352del	XP_016878601.1:n.1157+334_1157+352del
XM_017023113.1:c.584+334_584+352del	XP_016878602.1:n.584+334_584+352del
NM_000512.5:c.1139+334_1139+352del MANE Select	NP_000503.1:n.1139+334_1139+352del
NM_001323543.2:c.584+334_584+352del	NP_001310472.1:n.584+334_584+352del
NM_001323544.2:c.1157+334_1157+352del	NP_001310473.1:n.1157+334_1157+352del