Canonical Allele Identifier: CA2573054289

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841083_88841084delinsAA , CM000678.2:g.88841083_88841084delinsAA	GRCh38
NC_000016.9:g.88907491_88907492delinsAA , CM000678.1:g.88907491_88907492delinsAA	GRCh37
NC_000016.8:g.87434992_87434993delinsAA	NCBI36
NG_008667.1:g.20883_20884delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.330_331delinsTT MANE Select	NP_000503.1:p.Pro111Ter
ENST00000268695.10:c.330_331delinsTT MANE Select	ENSP00000268695.5:p.Pro111Ter
NM_000512.4:c.330_331delinsTT	NP_000503.1:p.Pro111Ter
NM_001323543.1:c.-226_-225delinsTT	NP_001310472.1:n.-226_-225delinsTT
NM_001323543.2:c.-226_-225delinsTT	NP_001310472.1:n.-226_-225delinsTT
NM_001323544.1:c.348_349delinsTT	NP_001310473.1:p.Pro117Ter
NM_001323544.2:c.348_349delinsTT	NP_001310473.1:p.Pro117Ter
ENST00000268695.9:c.330_331delinsTT	ENSP00000268695.5:p.Pro111Ter
ENST00000562593.5:n.3739_3740delinsTT
ENST00000562831.1:c.114_115delinsTT	ENSP00000455174.1:p.Pro39Ter
ENST00000565364.1:n.465_466delinsTT
ENST00000567525.5:c.155_156delinsTT	ENSP00000454484.1:p.Arg52Leu
ENST00000567779.1:n.160_161delinsTT
ENST00000568613.5:c.449_450delinsTT	ENSP00000457921.1:n.449_450delinsTT
XM_005256301.2:c.330_331delinsTT	XP_005256358.1:p.Pro111Ter
XM_005256301.3:c.330_331delinsTT	XP_005256358.1:p.Pro111Ter
XM_005256302.1:c.348_349delinsTT	XP_005256359.1:p.Pro117Ter
XM_011522982.1:c.348_349delinsTT	XP_011521284.1:p.Pro117Ter
XM_011522982.2:c.348_349delinsTT	XP_011521284.1:p.Pro117Ter
XM_011522984.1:c.348_349delinsTT	XP_011521286.1:p.Pro117Ter
XM_017023111.2:c.348_349delinsTT	XP_016878600.1:p.Pro117Ter
XM_017023112.2:c.348_349delinsTT	XP_016878601.1:p.Pro117Ter
XM_017023113.1:c.-226_-225delinsTT	XP_016878602.1:n.-226_-225delinsTT