Canonical Allele Identifier: CA2600539939

Gene: GALNS

Linked Data

• gnomAD v3: 16-88826217-AGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTG-A
• gnomAD v4: 16-88826217-AGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826230_88826377del , CM000678.2:g.88826230_88826377del	GRCh38
NC_000016.9:g.88892638_88892785del , CM000678.1:g.88892638_88892785del	GRCh37
NC_000016.8:g.87420139_87420286del	NCBI36
NG_008667.1:g.35602_35749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+337_1139+484del MANE Select	ENSP00000268695.5:n.1139+337_1139+484del
ENST00000268695.9:c.1139+337_1139+484del	ENSP00000268695.5:n.1139+337_1139+484del
ENST00000562593.5:n.4548+337_4548+484del
ENST00000564263.1:n.415+337_415+484del
ENST00000567525.5:c.820+337_820+484del	ENSP00000454484.1:n.820+337_820+484del
ENST00000568613.5:c.1258+337_1258+484del	ENSP00000457921.1:n.1258+337_1258+484del
NM_000512.4:c.1139+337_1139+484del	NP_000503.1:n.1139+337_1139+484del
XM_005256301.2:c.1139+337_1139+484del	XP_005256358.1:n.1139+337_1139+484del
XM_005256302.1:c.1157+337_1157+484del	XP_005256359.1:n.1157+337_1157+484del
XM_011522982.1:c.1157+337_1157+484del	XP_011521284.1:n.1157+337_1157+484del
XM_011522984.1:c.1157+337_1157+484del	XP_011521286.1:n.1157+337_1157+484del
NM_001323543.1:c.584+337_584+484del	NP_001310472.1:n.584+337_584+484del
NM_001323544.1:c.1157+337_1157+484del	NP_001310473.1:n.1157+337_1157+484del
XM_005256301.3:c.1139+337_1139+484del	XP_005256358.1:n.1139+337_1139+484del
XM_011522982.2:c.1157+337_1157+484del	XP_011521284.1:n.1157+337_1157+484del
XM_017023111.2:c.1157+337_1157+484del	XP_016878600.1:n.1157+337_1157+484del
XM_017023112.2:c.1157+337_1157+484del	XP_016878601.1:n.1157+337_1157+484del
XM_017023113.1:c.584+337_584+484del	XP_016878602.1:n.584+337_584+484del
NM_000512.5:c.1139+337_1139+484del MANE Select	NP_000503.1:n.1139+337_1139+484del
NM_001323543.2:c.584+337_584+484del	NP_001310472.1:n.584+337_584+484del
NM_001323544.2:c.1157+337_1157+484del	NP_001310473.1:n.1157+337_1157+484del