Canonical Allele Identifier: CA2634888142

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818079_88818080del , CM000678.2:g.88818079_88818080del	GRCh38
NC_000016.9:g.88884487_88884488del , CM000678.1:g.88884487_88884488del	GRCh37
NC_000016.8:g.87411988_87411989del	NCBI36
NG_008667.1:g.43887_43888del

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1409_1410del MANE Select	NP_000503.1:p.Ser470CysfsTer?
ENST00000268695.10:c.1409_1410del MANE Select	ENSP00000268695.5:p.Ser470CysfsTer?
NM_000512.4:c.1409_1410del	NP_000503.1:p.Ser470CysfsTer?
NM_001323543.1:c.854_855del	NP_001310472.1:p.Ser285CysfsTer?
NM_001323543.2:c.854_855del	NP_001310472.1:p.Ser285CysfsTer?
NM_001323544.1:c.1427_1428del	NP_001310473.1:p.Ser476CysfsTer?
NM_001323544.2:c.1427_1428del	NP_001310473.1:p.Ser476CysfsTer?
ENST00000268695.9:c.1409_1410del	ENSP00000268695.5:p.Ser470CysfsTer?
ENST00000562593.5:n.4818_4819del
ENST00000567525.5:c.1090_1091del	ENSP00000454484.1:n.1090_1091del
ENST00000568613.5:c.1528_1529del	ENSP00000457921.1:n.1528_1529del
XM_005256301.2:c.1409_1410del	XP_005256358.1:p.Ser470CysfsTer?
XM_005256301.3:c.1409_1410del	XP_005256358.1:p.Ser470CysfsTer?
XM_005256302.1:c.1427_1428del	XP_005256359.1:p.Ser476CysfsTer?
XM_011522982.1:c.1427_1428del	XP_011521284.1:p.Ser476CysfsTer?
XM_011522982.2:c.1427_1428del	XP_011521284.1:p.Ser476CysfsTer?
XM_011522984.1:c.1427_1428del	XP_011521286.1:p.Ser476CysfsTer?
XM_017023111.2:c.1427_1428del	XP_016878600.1:p.Ser476CysfsTer28
XM_017023112.2:c.1427_1428del	XP_016878601.1:p.Ser476CysfsTer?
XM_017023113.1:c.854_855del	XP_016878602.1:p.Ser285CysfsTer?