Canonical Allele Identifier: CA983970370

Linked Data

dbSNP Id: rs2049118211

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007981dup , CM000679.2:g.44007981dup GRCh38
NC_000017.10:g.42085349dup , CM000679.1:g.42085349dup GRCh37
NC_000017.9:g.39440875dup NCBI36
NG_008106.1:g.8318dup
NG_023338.1:g.1489dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1451+208dup (NAGS) MANE Select ENSP00000293404.2:n.1451+208dup
ENST00000293404.7:c.1451+208dup (NAGS) ENSP00000293404.2:n.1451+208dup
ENST00000589767.1:c.1382+208dup (NAGS) ENSP00000465408.1:n.1382+208dup
ENST00000592915.1:n.1339+208dup (NAGS)
NM_153006.2:c.1451+208dup (NAGS) NP_694551.1:n.1451+208dup
XM_011524438.1:c.1269-467dup (NAGS) XP_011522740.1:n.1269-467dup
XM_011524439.1:c.953+208dup (NAGS) XP_011522741.1:n.953+208dup
XM_011525035.1:c.-463+15591dup (PYY) XP_011523337.1:n.-463+15591dup
XM_011524439.2:c.953+208dup (NAGS) XP_011522741.1:n.953+208dup
NM_153006.3:c.1451+208dup (NAGS) MANE Select NP_694551.1:n.1451+208dup