Canonical Allele Identifier: CA2499224656
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007736_44007737del , CM000679.2:g.44007736_44007737del GRCh38
NC_000017.10:g.42085104_42085105del , CM000679.1:g.42085104_42085105del GRCh37
NC_000017.9:g.39440630_39440631del NCBI36
NG_008106.1:g.8073_8074del
NG_023338.1:g.1735_1736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1414_1415del (NAGS) MANE Select ENSP00000293404.2:p.Phe472LeufsTer18
ENST00000293404.7:c.1414_1415del (NAGS) ENSP00000293404.2:p.Phe472LeufsTer18
ENST00000589767.1:c.1345_1346del (NAGS) ENSP00000465408.1:p.Phe449LeufsTer18
ENST00000592915.1:n.1302_1303del (NAGS)
NM_153006.2:c.1414_1415del (NAGS) NP_694551.1:p.Phe472LeufsTer18
XM_011524438.1:c.1268+242_1268+243del (NAGS) XP_011522740.1:n.1268+242_1268+243del
XM_011524439.1:c.916_917del (NAGS) XP_011522741.1:p.Phe306LeufsTer18
XM_011525035.1:c.-463+15837_-463+15838del (PYY) XP_011523337.1:n.-463+15837_-463+15838del
XM_011524439.2:c.916_917del (NAGS) XP_011522741.1:p.Phe306LeufsTer18
NM_153006.3:c.1414_1415del (NAGS) MANE Select NP_694551.1:p.Phe472LeufsTer18