Canonical Allele Identifier: CA983970277

Linked Data

dbSNP Id: rs2049116323

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007800dup , CM000679.2:g.44007800dup GRCh38
NC_000017.10:g.42085168dup , CM000679.1:g.42085168dup GRCh37
NC_000017.9:g.39440694dup NCBI36
NG_008106.1:g.8137dup
NG_023338.1:g.1672dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+27dup (NAGS) MANE Select ENSP00000293404.2:n.1451+27dup
ENST00000293404.7:c.1451+27dup (NAGS) ENSP00000293404.2:n.1451+27dup
ENST00000589767.1:c.1382+27dup (NAGS) ENSP00000465408.1:n.1382+27dup
ENST00000592915.1:n.1339+27dup (NAGS)
NM_153006.2:c.1451+27dup (NAGS) NP_694551.1:n.1451+27dup
XM_011524438.1:c.1268+306dup (NAGS) XP_011522740.1:n.1268+306dup
XM_011524439.1:c.953+27dup (NAGS) XP_011522741.1:n.953+27dup
XM_011525035.1:c.-463+15774dup (PYY) XP_011523337.1:n.-463+15774dup
XM_011524439.2:c.953+27dup (NAGS) XP_011522741.1:n.953+27dup
NM_153006.3:c.1451+27dup (NAGS) MANE Select NP_694551.1:n.1451+27dup