Canonical Allele Identifier: CA2241324529

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835227_88835228delinsGA , CM000678.2:g.88835227_88835228delinsGA	GRCh38
NC_000016.9:g.88901635_88901636delinsGA , CM000678.1:g.88901635_88901636delinsGA	GRCh37
NC_000016.8:g.87429136_87429137delinsGA	NCBI36
NG_008667.1:g.26739_26740delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.883_884delinsTC MANE Select	ENSP00000268695.5:p.Ser295=
ENST00000268695.9:c.883_884delinsTC	ENSP00000268695.5:p.Ser295=
ENST00000562593.5:n.4292_4293delinsTC
ENST00000562931.5:n.471_472delinsTC
ENST00000567525.5:c.564_565delinsTC	ENSP00000454484.1:n.564_565delinsTC
ENST00000568613.5:c.1002_1003delinsTC	ENSP00000457921.1:n.1002_1003delinsTC
NM_000512.4:c.883_884delinsTC	NP_000503.1:p.Ser295=
XM_005256301.2:c.883_884delinsTC	XP_005256358.1:p.Ser295=
XM_005256302.1:c.901_902delinsTC	XP_005256359.1:p.Ser301=
XM_011522982.1:c.901_902delinsTC	XP_011521284.1:p.Ser301=
XM_011522984.1:c.901_902delinsTC	XP_011521286.1:p.Ser301=
NM_001323543.1:c.328_329delinsTC	NP_001310472.1:p.Ser110=
NM_001323544.1:c.901_902delinsTC	NP_001310473.1:p.Ser301=
XM_005256301.3:c.883_884delinsTC	XP_005256358.1:p.Ser295=
XM_011522982.2:c.901_902delinsTC	XP_011521284.1:p.Ser301=
XM_017023111.2:c.901_902delinsTC	XP_016878600.1:p.Ser301=
XM_017023112.2:c.901_902delinsTC	XP_016878601.1:p.Ser301=
XM_017023113.1:c.328_329delinsTC	XP_016878602.1:p.Ser110=
NM_000512.5:c.883_884delinsTC MANE Select	NP_000503.1:p.Ser295=
NM_001323543.2:c.328_329delinsTC	NP_001310472.1:p.Ser110=
NM_001323544.2:c.901_902delinsTC	NP_001310473.1:p.Ser301=