Canonical Allele Identifier: CA2634891725

Gene: GALNS

Linked Data

• gnomAD v4: 16-88835498-AGGAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835501_88835505del , CM000678.2:g.88835501_88835505del	GRCh38
NC_000016.9:g.88901909_88901913del , CM000678.1:g.88901909_88901913del	GRCh37
NC_000016.8:g.87429410_87429414del	NCBI36
NG_008667.1:g.26464_26468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.759-151_759-147del MANE Select	ENSP00000268695.5:n.759-151_759-147del
ENST00000268695.9:c.759-151_759-147del	ENSP00000268695.5:n.759-151_759-147del
ENST00000562593.5:n.4168-151_4168-147del
ENST00000562931.5:n.347-151_347-147del
ENST00000567525.5:c.440-151_440-147del	ENSP00000454484.1:n.440-151_440-147del
ENST00000568613.5:c.878-151_878-147del	ENSP00000457921.1:n.878-151_878-147del
NM_000512.4:c.759-151_759-147del	NP_000503.1:n.759-151_759-147del
XM_005256301.2:c.759-151_759-147del	XP_005256358.1:n.759-151_759-147del
XM_005256302.1:c.777-151_777-147del	XP_005256359.1:n.777-151_777-147del
XM_011522982.1:c.777-151_777-147del	XP_011521284.1:n.777-151_777-147del
XM_011522984.1:c.777-151_777-147del	XP_011521286.1:n.777-151_777-147del
NM_001323543.1:c.204-151_204-147del	NP_001310472.1:n.204-151_204-147del
NM_001323544.1:c.777-151_777-147del	NP_001310473.1:n.777-151_777-147del
XM_005256301.3:c.759-151_759-147del	XP_005256358.1:n.759-151_759-147del
XM_011522982.2:c.777-151_777-147del	XP_011521284.1:n.777-151_777-147del
XM_017023111.2:c.777-151_777-147del	XP_016878600.1:n.777-151_777-147del
XM_017023112.2:c.777-151_777-147del	XP_016878601.1:n.777-151_777-147del
XM_017023113.1:c.204-151_204-147del	XP_016878602.1:n.204-151_204-147del
NM_000512.5:c.759-151_759-147del MANE Select	NP_000503.1:n.759-151_759-147del
NM_001323543.2:c.204-151_204-147del	NP_001310472.1:n.204-151_204-147del
NM_001323544.2:c.777-151_777-147del	NP_001310473.1:n.777-151_777-147del