Canonical Allele Identifier: CA2573159499
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88832001_88836270dup , CM000678.2:g.88832001_88836270dup GRCh38
NC_000016.9:g.88898409_88902678dup , CM000678.1:g.88898409_88902678dup GRCh37
NC_000016.8:g.87425910_87430179dup NCBI36
NG_008667.1:g.25700_29969dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.567_1002dup
ENST00000268695.9:c.567_1002dup
ENST00000562593.5:n.3976_4411dup
ENST00000567525.5:c.248_683dup
ENST00000568613.5:c.686_1121dup
NM_000512.4:c.567_1002dup
XM_005256301.2:c.567_1002dup
XM_005256302.1:c.585_1020dup
XM_011522982.1:c.585_1020dup
XM_011522984.1:c.585_1020dup
NM_001323543.1:c.12_447dup
NM_001323544.1:c.585_1020dup
XM_005256301.3:c.567_1002dup
XM_011522982.2:c.585_1020dup
XM_017023111.2:c.585_1020dup
XM_017023112.2:c.585_1020dup
XM_017023113.1:c.12_447dup
NM_000512.5:c.567_1002dup
NM_001323543.2:c.12_447dup
NM_001323544.2:c.585_1020dup