Canonical Allele Identifier: CA2839646145

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007495dup , CM000679.2:g.44007495dup GRCh38
NC_000017.10:g.42084863dup , CM000679.1:g.42084863dup GRCh37
NC_000017.9:g.39440389dup NCBI36
NG_008106.1:g.7832dup
NG_023338.1:g.1978dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1268+1dup (NAGS)
ENST00000293404.7:c.1268+1dup (NAGS)
ENST00000589767.1:c.1175+1dup (NAGS)
ENST00000592915.1:n.1156+1dup (NAGS)
NM_153006.2:c.1268+1dup (NAGS)
XM_011524438.1:c.1268+1dup (NAGS)
XM_011524439.1:c.770+1dup (NAGS)
XM_011525035.1:c.-463+16080dup (PYY) XP_011523337.1:n.-463+16080dup
XM_011524439.2:c.770+1dup (NAGS)
NM_153006.3:c.1268+1dup (NAGS)