Canonical Allele Identifier: CA2634891347

Gene: GALNS

Linked Data

• gnomAD v4: 16-88835290-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835290_88835291insA , CM000678.2:g.88835290_88835291insA	GRCh38
NC_000016.9:g.88901698_88901699insA , CM000678.1:g.88901698_88901699insA	GRCh37
NC_000016.8:g.87429199_87429200insA	NCBI36
NG_008667.1:g.26676_26677insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.820_821insT MANE Select	ENSP00000268695.5:p.Asp274ValfsTer?
ENST00000268695.9:c.820_821insT	ENSP00000268695.5:p.Asp274ValfsTer?
ENST00000562593.5:n.4229_4230insT
ENST00000562931.5:n.408_409insT
ENST00000567525.5:c.501_502insT	ENSP00000454484.1:n.501_502insT
ENST00000568613.5:c.939_940insT	ENSP00000457921.1:n.939_940insT
NM_000512.4:c.820_821insT	NP_000503.1:p.Asp274ValfsTer?
XM_005256301.2:c.820_821insT	XP_005256358.1:p.Asp274ValfsTer?
XM_005256302.1:c.838_839insT	XP_005256359.1:p.Asp280ValfsTer?
XM_011522982.1:c.838_839insT	XP_011521284.1:p.Asp280ValfsTer?
XM_011522984.1:c.838_839insT	XP_011521286.1:p.Asp280ValfsTer?
NM_001323543.1:c.265_266insT	NP_001310472.1:p.Asp89ValfsTer?
NM_001323544.1:c.838_839insT	NP_001310473.1:p.Asp280ValfsTer?
XM_005256301.3:c.820_821insT	XP_005256358.1:p.Asp274ValfsTer?
XM_011522982.2:c.838_839insT	XP_011521284.1:p.Asp280ValfsTer?
XM_017023111.2:c.838_839insT	XP_016878600.1:p.Asp280ValfsTer?
XM_017023112.2:c.838_839insT	XP_016878601.1:p.Asp280ValfsTer?
XM_017023113.1:c.265_266insT	XP_016878602.1:p.Asp89ValfsTer?
NM_000512.5:c.820_821insT MANE Select	NP_000503.1:p.Asp274ValfsTer?
NM_001323543.2:c.265_266insT	NP_001310472.1:p.Asp89ValfsTer?
NM_001323544.2:c.838_839insT	NP_001310473.1:p.Asp280ValfsTer?