Canonical Allele Identifier: CA980343524

Gene: GALNS

Linked Data

• gnomAD v3: 16-88826297-ACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGG-A
• gnomAD v4: 16-88826297-ACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826308_88826405del , CM000678.2:g.88826308_88826405del	GRCh38
NC_000016.9:g.88892716_88892813del , CM000678.1:g.88892716_88892813del	GRCh37
NC_000016.8:g.87420217_87420314del	NCBI36
NG_008667.1:g.35572_35669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+307_1139+404del MANE Select	ENSP00000268695.5:n.1139+307_1139+404del
ENST00000268695.9:c.1139+307_1139+404del	ENSP00000268695.5:n.1139+307_1139+404del
ENST00000562593.5:n.4548+307_4548+404del
ENST00000564263.1:n.415+307_415+404del
ENST00000567525.5:c.820+307_820+404del	ENSP00000454484.1:n.820+307_820+404del
ENST00000568613.5:c.1258+307_1258+404del	ENSP00000457921.1:n.1258+307_1258+404del
NM_000512.4:c.1139+307_1139+404del	NP_000503.1:n.1139+307_1139+404del
XM_005256301.2:c.1139+307_1139+404del	XP_005256358.1:n.1139+307_1139+404del
XM_005256302.1:c.1157+307_1157+404del	XP_005256359.1:n.1157+307_1157+404del
XM_011522982.1:c.1157+307_1157+404del	XP_011521284.1:n.1157+307_1157+404del
XM_011522984.1:c.1157+307_1157+404del	XP_011521286.1:n.1157+307_1157+404del
NM_001323543.1:c.584+307_584+404del	NP_001310472.1:n.584+307_584+404del
NM_001323544.1:c.1157+307_1157+404del	NP_001310473.1:n.1157+307_1157+404del
XM_005256301.3:c.1139+307_1139+404del	XP_005256358.1:n.1139+307_1139+404del
XM_011522982.2:c.1157+307_1157+404del	XP_011521284.1:n.1157+307_1157+404del
XM_017023111.2:c.1157+307_1157+404del	XP_016878600.1:n.1157+307_1157+404del
XM_017023112.2:c.1157+307_1157+404del	XP_016878601.1:n.1157+307_1157+404del
XM_017023113.1:c.584+307_584+404del	XP_016878602.1:n.584+307_584+404del
NM_000512.5:c.1139+307_1139+404del MANE Select	NP_000503.1:n.1139+307_1139+404del
NM_001323543.2:c.584+307_584+404del	NP_001310472.1:n.584+307_584+404del
NM_001323544.2:c.1157+307_1157+404del	NP_001310473.1:n.1157+307_1157+404del