Canonical Allele Identifier: CA913203446

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006649dup , CM000679.2:g.44006649dup GRCh38
NC_000017.10:g.42084017dup , CM000679.1:g.42084017dup GRCh37
NC_000017.9:g.39439543dup NCBI36
NG_008106.1:g.6986dup
NG_023338.1:g.2822dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1036dup (NAGS) MANE Select ENSP00000293404.2:p.His346ProfsTer10
ENST00000293404.7:c.1036dup (NAGS) ENSP00000293404.2:p.His346ProfsTer10
ENST00000589767.1:c.943dup (NAGS) ENSP00000465408.1:p.His315ProfsTer10
ENST00000592915.1:n.311dup (NAGS)
NM_153006.2:c.1036dup (NAGS) NP_694551.1:p.His346ProfsTer10
XM_011524438.1:c.1036dup (NAGS) XP_011522740.1:p.His346ProfsTer10
XM_011524439.1:c.538dup (NAGS) XP_011522741.1:p.His180ProfsTer10
XM_011525035.1:c.-463+16924dup (PYY) XP_011523337.1:n.-463+16924dup
XM_011524439.2:c.538dup (NAGS) XP_011522741.1:p.His180ProfsTer10
NM_153006.3:c.1036dup (NAGS) MANE Select NP_694551.1:p.His346ProfsTer10