Canonical Allele Identifier: CA2261182274

Linked Data

dbSNP Id: rs2049097790

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006729dup , CM000679.2:g.44006729dup GRCh38
NC_000017.10:g.42084097dup , CM000679.1:g.42084097dup GRCh37
NC_000017.9:g.39439623dup NCBI36
NG_008106.1:g.7066dup
NG_023338.1:g.2742dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+20dup (NAGS) MANE Select ENSP00000293404.2:n.1096+20dup
ENST00000293404.7:c.1096+20dup (NAGS) ENSP00000293404.2:n.1096+20dup
ENST00000589767.1:c.1003+20dup (NAGS) ENSP00000465408.1:n.1003+20dup
ENST00000592915.1:n.391dup (NAGS)
NM_153006.2:c.1096+20dup (NAGS) NP_694551.1:n.1096+20dup
XM_011524438.1:c.1096+20dup (NAGS) XP_011522740.1:n.1096+20dup
XM_011524439.1:c.598+20dup (NAGS) XP_011522741.1:n.598+20dup
XM_011525035.1:c.-463+16844dup (PYY) XP_011523337.1:n.-463+16844dup
XM_011524439.2:c.598+20dup (NAGS) XP_011522741.1:n.598+20dup
NM_153006.3:c.1096+20dup (NAGS) MANE Select NP_694551.1:n.1096+20dup