Canonical Allele Identifier: CA8595359

Linked Data

dbSNP Id: rs767733191

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007532dup , CM000679.2:g.44007532dup GRCh38
NC_000017.10:g.42084900dup , CM000679.1:g.42084900dup GRCh37
NC_000017.9:g.39440426dup NCBI36
NG_008106.1:g.7869dup
NG_023338.1:g.1938dup

Transcript Alleles

HGVS Amino-acid change
ENST00000293404.8:c.1268+38dup (NAGS) MANE Select ENSP00000293404.2:n.1268+38dup
ENST00000293404.7:c.1268+38dup (NAGS) ENSP00000293404.2:n.1268+38dup
ENST00000589767.1:c.1176-35dup (NAGS) ENSP00000465408.1:n.1176-35dup
ENST00000592915.1:n.1156+38dup (NAGS)
NM_153006.2:c.1268+38dup (NAGS) NP_694551.1:n.1268+38dup
XM_011524438.1:c.1268+38dup (NAGS) XP_011522740.1:n.1268+38dup
XM_011524439.1:c.770+38dup (NAGS) XP_011522741.1:n.770+38dup
XM_011525035.1:c.-463+16040dup (PYY) XP_011523337.1:n.-463+16040dup
XM_011524439.2:c.770+38dup (NAGS) XP_011522741.1:n.770+38dup
NM_153006.3:c.1268+38dup (NAGS) MANE Select NP_694551.1:n.1268+38dup