Canonical Allele Identifier: CA983969530

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006727dup , CM000679.2:g.44006727dup GRCh38
NC_000017.10:g.42084095dup , CM000679.1:g.42084095dup GRCh37
NC_000017.9:g.39439621dup NCBI36
NG_008106.1:g.7064dup
NG_023338.1:g.2745dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+18dup (NAGS) MANE Select ENSP00000293404.2:n.1096+18dup
ENST00000293404.7:c.1096+18dup (NAGS) ENSP00000293404.2:n.1096+18dup
ENST00000589767.1:c.1003+18dup (NAGS) ENSP00000465408.1:n.1003+18dup
ENST00000592915.1:n.389dup (NAGS)
NM_153006.2:c.1096+18dup (NAGS) NP_694551.1:n.1096+18dup
XM_011524438.1:c.1096+18dup (NAGS) XP_011522740.1:n.1096+18dup
XM_011524439.1:c.598+18dup (NAGS) XP_011522741.1:n.598+18dup
XM_011525035.1:c.-463+16847dup (PYY) XP_011523337.1:n.-463+16847dup
XM_011524439.2:c.598+18dup (NAGS) XP_011522741.1:n.598+18dup
NM_153006.3:c.1096+18dup (NAGS) MANE Select NP_694551.1:n.1096+18dup