Canonical Allele Identifier: CA980343377

Gene: GALNS

Linked Data

• gnomAD v3: 16-88826245-AGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCG-A
• gnomAD v4: 16-88826245-AGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826254_88826401del , CM000678.2:g.88826254_88826401del	GRCh38
NC_000016.9:g.88892662_88892809del , CM000678.1:g.88892662_88892809del	GRCh37
NC_000016.8:g.87420163_87420310del	NCBI36
NG_008667.1:g.35574_35721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+309_1139+456del MANE Select	ENSP00000268695.5:n.1139+309_1139+456del
ENST00000268695.9:c.1139+309_1139+456del	ENSP00000268695.5:n.1139+309_1139+456del
ENST00000562593.5:n.4548+309_4548+456del
ENST00000564263.1:n.415+309_415+456del
ENST00000567525.5:c.820+309_820+456del	ENSP00000454484.1:n.820+309_820+456del
ENST00000568613.5:c.1258+309_1258+456del	ENSP00000457921.1:n.1258+309_1258+456del
NM_000512.4:c.1139+309_1139+456del	NP_000503.1:n.1139+309_1139+456del
XM_005256301.2:c.1139+309_1139+456del	XP_005256358.1:n.1139+309_1139+456del
XM_005256302.1:c.1157+309_1157+456del	XP_005256359.1:n.1157+309_1157+456del
XM_011522982.1:c.1157+309_1157+456del	XP_011521284.1:n.1157+309_1157+456del
XM_011522984.1:c.1157+309_1157+456del	XP_011521286.1:n.1157+309_1157+456del
NM_001323543.1:c.584+309_584+456del	NP_001310472.1:n.584+309_584+456del
NM_001323544.1:c.1157+309_1157+456del	NP_001310473.1:n.1157+309_1157+456del
XM_005256301.3:c.1139+309_1139+456del	XP_005256358.1:n.1139+309_1139+456del
XM_011522982.2:c.1157+309_1157+456del	XP_011521284.1:n.1157+309_1157+456del
XM_017023111.2:c.1157+309_1157+456del	XP_016878600.1:n.1157+309_1157+456del
XM_017023112.2:c.1157+309_1157+456del	XP_016878601.1:n.1157+309_1157+456del
XM_017023113.1:c.584+309_584+456del	XP_016878602.1:n.584+309_584+456del
NM_000512.5:c.1139+309_1139+456del MANE Select	NP_000503.1:n.1139+309_1139+456del
NM_001323543.2:c.584+309_584+456del	NP_001310472.1:n.584+309_584+456del
NM_001323544.2:c.1157+309_1157+456del	NP_001310473.1:n.1157+309_1157+456del