Canonical Allele Identifier: CA980343267

Gene: GALNS

Linked Data

• dbSNP Id: rs1910886593
• gnomAD v3: 16-88826209-GTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCA-G
• gnomAD v4: 16-88826209-GTGTGCCCAGGTACAGGCAGGCAACAGGGGTGGGGCAGGCAGGGGTGGCATGTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826217_88826413del , CM000678.2:g.88826217_88826413del	GRCh38
NC_000016.9:g.88892625_88892821del , CM000678.1:g.88892625_88892821del	GRCh37
NC_000016.8:g.87420126_87420322del	NCBI36
NG_008667.1:g.35561_35757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+296_1139+492del MANE Select	ENSP00000268695.5:n.1139+296_1139+492del
ENST00000268695.9:c.1139+296_1139+492del	ENSP00000268695.5:n.1139+296_1139+492del
ENST00000562593.5:n.4548+296_4548+492del
ENST00000564263.1:n.415+296_415+492del
ENST00000567525.5:c.820+296_820+492del	ENSP00000454484.1:n.820+296_820+492del
ENST00000568613.5:c.1258+296_1258+492del	ENSP00000457921.1:n.1258+296_1258+492del
NM_000512.4:c.1139+296_1139+492del	NP_000503.1:n.1139+296_1139+492del
XM_005256301.2:c.1139+296_1139+492del	XP_005256358.1:n.1139+296_1139+492del
XM_005256302.1:c.1157+296_1157+492del	XP_005256359.1:n.1157+296_1157+492del
XM_011522982.1:c.1157+296_1157+492del	XP_011521284.1:n.1157+296_1157+492del
XM_011522984.1:c.1157+296_1157+492del	XP_011521286.1:n.1157+296_1157+492del
NM_001323543.1:c.584+296_584+492del	NP_001310472.1:n.584+296_584+492del
NM_001323544.1:c.1157+296_1157+492del	NP_001310473.1:n.1157+296_1157+492del
XM_005256301.3:c.1139+296_1139+492del	XP_005256358.1:n.1139+296_1139+492del
XM_011522982.2:c.1157+296_1157+492del	XP_011521284.1:n.1157+296_1157+492del
XM_017023111.2:c.1157+296_1157+492del	XP_016878600.1:n.1157+296_1157+492del
XM_017023112.2:c.1157+296_1157+492del	XP_016878601.1:n.1157+296_1157+492del
XM_017023113.1:c.584+296_584+492del	XP_016878602.1:n.584+296_584+492del
NM_000512.5:c.1139+296_1139+492del MANE Select	NP_000503.1:n.1139+296_1139+492del
NM_001323543.2:c.584+296_584+492del	NP_001310472.1:n.584+296_584+492del
NM_001323544.2:c.1157+296_1157+492del	NP_001310473.1:n.1157+296_1157+492del