Canonical Allele Identifier: CA2840572651

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007464dup , CM000679.2:g.44007464dup GRCh38
NC_000017.10:g.42084832dup , CM000679.1:g.42084832dup GRCh37
NC_000017.9:g.39440358dup NCBI36
NG_008106.1:g.7801dup
NG_023338.1:g.2008dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1238dup (NAGS) MANE Select ENSP00000293404.2:p.Arg414AlafsTer?
ENST00000293404.7:c.1238dup (NAGS) ENSP00000293404.2:p.Arg414AlafsTer?
ENST00000589767.1:c.1145dup (NAGS) ENSP00000465408.1:p.Arg383AlafsTer?
ENST00000592915.1:n.1126dup (NAGS)
NM_153006.2:c.1238dup (NAGS) NP_694551.1:p.Arg414AlafsTer?
XM_011524438.1:c.1238dup (NAGS) XP_011522740.1:p.Arg414AlafsTer16
XM_011524439.1:c.740dup (NAGS) XP_011522741.1:p.Arg248AlafsTer?
XM_011525035.1:c.-463+16110dup (PYY) XP_011523337.1:n.-463+16110dup
XM_011524439.2:c.740dup (NAGS) XP_011522741.1:p.Arg248AlafsTer?
NM_153006.3:c.1238dup (NAGS) MANE Select NP_694551.1:p.Arg414AlafsTer?