Canonical Allele Identifier: CA645575366

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837674_88837676del , CM000678.2:g.88837674_88837676del	GRCh38
NC_000016.9:g.88904082_88904084del , CM000678.1:g.88904082_88904084del	GRCh37
NC_000016.8:g.87431583_87431585del	NCBI36
NG_008667.1:g.24295_24297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.516_518del MANE Select	ENSP00000268695.5:p.Asn172del
ENST00000268695.9:c.516_518del	ENSP00000268695.5:p.Asn172del
ENST00000561812.1:n.472_474del
ENST00000562593.5:n.3925_3927del
ENST00000562831.1:c.300_302del	ENSP00000455174.1:p.Asn100del
ENST00000562931.5:n.104_106del
ENST00000566563.1:n.218_220del
ENST00000567525.5:c.248-1405_248-1403del	ENSP00000454484.1:n.248-1405_248-1403del
ENST00000568613.5:c.635_637del	ENSP00000457921.1:n.635_637del
NM_000512.4:c.516_518del	NP_000503.1:p.Asn172del
XM_005256301.2:c.516_518del	XP_005256358.1:p.Asn172del
XM_005256302.1:c.534_536del	XP_005256359.1:p.Asn178del
XM_011522982.1:c.534_536del	XP_011521284.1:p.Asn178del
XM_011522984.1:c.534_536del	XP_011521286.1:p.Asn178del
NM_001323543.1:c.-40_-38del	NP_001310472.1:n.-40_-38del
NM_001323544.1:c.534_536del	NP_001310473.1:p.Asn178del
XM_005256301.3:c.516_518del	XP_005256358.1:p.Asn172del
XM_011522982.2:c.534_536del	XP_011521284.1:p.Asn178del
XM_017023111.2:c.534_536del	XP_016878600.1:p.Asn178del
XM_017023112.2:c.534_536del	XP_016878601.1:p.Asn178del
XM_017023113.1:c.-40_-38del	XP_016878602.1:n.-40_-38del
NM_000512.5:c.516_518del MANE Select	NP_000503.1:p.Asn172del
NM_001323543.2:c.-40_-38del	NP_001310472.1:n.-40_-38del
NM_001323544.2:c.534_536del	NP_001310473.1:p.Asn178del