Canonical Allele Identifier: CA2634891450

Gene: GALNS

Linked Data

• gnomAD v4: 16-88835334-CCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835335_88835337del , CM000678.2:g.88835335_88835337del	GRCh38
NC_000016.9:g.88901743_88901745del , CM000678.1:g.88901743_88901745del	GRCh37
NC_000016.8:g.87429244_87429246del	NCBI36
NG_008667.1:g.26630_26632del

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.774_776del MANE Select	ENSP00000268695.5:p.Arg259del
ENST00000268695.9:c.774_776del	ENSP00000268695.5:p.Arg259del
ENST00000562593.5:n.4183_4185del
ENST00000562931.5:n.362_364del
ENST00000567525.5:c.455_457del	ENSP00000454484.1:n.455_457del
ENST00000568613.5:c.893_895del	ENSP00000457921.1:n.893_895del
NM_000512.4:c.774_776del	NP_000503.1:p.Arg259del
XM_005256301.2:c.774_776del	XP_005256358.1:p.Arg259del
XM_005256302.1:c.792_794del	XP_005256359.1:p.Arg265del
XM_011522982.1:c.792_794del	XP_011521284.1:p.Arg265del
XM_011522984.1:c.792_794del	XP_011521286.1:p.Arg265del
NM_001323543.1:c.219_221del	NP_001310472.1:p.Arg74del
NM_001323544.1:c.792_794del	NP_001310473.1:p.Arg265del
XM_005256301.3:c.774_776del	XP_005256358.1:p.Arg259del
XM_011522982.2:c.792_794del	XP_011521284.1:p.Arg265del
XM_017023111.2:c.792_794del	XP_016878600.1:p.Arg265del
XM_017023112.2:c.792_794del	XP_016878601.1:p.Arg265del
XM_017023113.1:c.219_221del	XP_016878602.1:p.Arg74del
NM_000512.5:c.774_776del MANE Select	NP_000503.1:p.Arg259del
NM_001323543.2:c.219_221del	NP_001310472.1:p.Arg74del
NM_001323544.2:c.792_794del	NP_001310473.1:p.Arg265del