Canonical Allele Identifier: CA980343424

Gene: GALNS

Linked Data

• gnomAD v3: 16-88826260-GTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCA-G
• gnomAD v4: 16-88826260-GTGCCCGGGCTGCAGGCAGGGAACAGGGGTGGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGCGGCGGACAGGGGTGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGGGGCGGGCAGGGGCGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826263_88826408del , CM000678.2:g.88826263_88826408del	GRCh38
NC_000016.9:g.88892671_88892816del , CM000678.1:g.88892671_88892816del	GRCh37
NC_000016.8:g.87420172_87420317del	NCBI36
NG_008667.1:g.35561_35706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+296_1139+441del MANE Select	ENSP00000268695.5:n.1139+296_1139+441del
ENST00000268695.9:c.1139+296_1139+441del	ENSP00000268695.5:n.1139+296_1139+441del
ENST00000562593.5:n.4548+296_4548+441del
ENST00000564263.1:n.415+296_415+441del
ENST00000567525.5:c.820+296_820+441del	ENSP00000454484.1:n.820+296_820+441del
ENST00000568613.5:c.1258+296_1258+441del	ENSP00000457921.1:n.1258+296_1258+441del
NM_000512.4:c.1139+296_1139+441del	NP_000503.1:n.1139+296_1139+441del
XM_005256301.2:c.1139+296_1139+441del	XP_005256358.1:n.1139+296_1139+441del
XM_005256302.1:c.1157+296_1157+441del	XP_005256359.1:n.1157+296_1157+441del
XM_011522982.1:c.1157+296_1157+441del	XP_011521284.1:n.1157+296_1157+441del
XM_011522984.1:c.1157+296_1157+441del	XP_011521286.1:n.1157+296_1157+441del
NM_001323543.1:c.584+296_584+441del	NP_001310472.1:n.584+296_584+441del
NM_001323544.1:c.1157+296_1157+441del	NP_001310473.1:n.1157+296_1157+441del
XM_005256301.3:c.1139+296_1139+441del	XP_005256358.1:n.1139+296_1139+441del
XM_011522982.2:c.1157+296_1157+441del	XP_011521284.1:n.1157+296_1157+441del
XM_017023111.2:c.1157+296_1157+441del	XP_016878600.1:n.1157+296_1157+441del
XM_017023112.2:c.1157+296_1157+441del	XP_016878601.1:n.1157+296_1157+441del
XM_017023113.1:c.584+296_584+441del	XP_016878602.1:n.584+296_584+441del
NM_000512.5:c.1139+296_1139+441del MANE Select	NP_000503.1:n.1139+296_1139+441del
NM_001323543.2:c.584+296_584+441del	NP_001310472.1:n.584+296_584+441del
NM_001323544.2:c.1157+296_1157+441del	NP_001310473.1:n.1157+296_1157+441del