Canonical Allele Identifier: CA2241324559

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835269_88835272delinsGTGT , CM000678.2:g.88835269_88835272delinsGTGT	GRCh38
NC_000016.9:g.88901677_88901680delinsGTGT , CM000678.1:g.88901677_88901680delinsGTGT	GRCh37
NC_000016.8:g.87429178_87429181delinsGTGT	NCBI36
NG_008667.1:g.26695_26698delinsACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.839_842delinsACAC MANE Select	ENSP00000268695.5:p.Asn280=
ENST00000268695.9:c.839_842delinsACAC	ENSP00000268695.5:p.Asn280=
ENST00000562593.5:n.4248_4251delinsACAC
ENST00000562931.5:n.427_430delinsACAC
ENST00000567525.5:c.520_523delinsACAC	ENSP00000454484.1:n.520_523delinsACAC
ENST00000568613.5:c.958_961delinsACAC	ENSP00000457921.1:n.958_961delinsACAC
NM_000512.4:c.839_842delinsACAC	NP_000503.1:p.Asn280=
XM_005256301.2:c.839_842delinsACAC	XP_005256358.1:p.Asn280=
XM_005256302.1:c.857_860delinsACAC	XP_005256359.1:p.Asn286=
XM_011522982.1:c.857_860delinsACAC	XP_011521284.1:p.Asn286=
XM_011522984.1:c.857_860delinsACAC	XP_011521286.1:p.Asn286=
NM_001323543.1:c.284_287delinsACAC	NP_001310472.1:p.Asn95=
NM_001323544.1:c.857_860delinsACAC	NP_001310473.1:p.Asn286=
XM_005256301.3:c.839_842delinsACAC	XP_005256358.1:p.Asn280=
XM_011522982.2:c.857_860delinsACAC	XP_011521284.1:p.Asn286=
XM_017023111.2:c.857_860delinsACAC	XP_016878600.1:p.Asn286=
XM_017023112.2:c.857_860delinsACAC	XP_016878601.1:p.Asn286=
XM_017023113.1:c.284_287delinsACAC	XP_016878602.1:p.Asn95=
NM_000512.5:c.839_842delinsACAC MANE Select	NP_000503.1:p.Asn280=
NM_001323543.2:c.284_287delinsACAC	NP_001310472.1:p.Asn95=
NM_001323544.2:c.857_860delinsACAC	NP_001310473.1:p.Asn286=