Canonical Allele Identifier: CA2695226165

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007690_44007691delinsT , CM000679.2:g.44007690_44007691delinsT GRCh38
NC_000017.10:g.42085058_42085059delinsT , CM000679.1:g.42085058_42085059delinsT GRCh37
NC_000017.9:g.39440584_39440585delinsT NCBI36
NG_008106.1:g.8027_8028delinsT
NG_023338.1:g.1779_1780delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1368_1369delinsT (NAGS) MANE Select ENSP00000293404.2:p.Gly457AlafsTer?
ENST00000293404.7:c.1368_1369delinsT (NAGS) ENSP00000293404.2:p.Gly457AlafsTer?
ENST00000589767.1:c.1299_1300delinsT (NAGS) ENSP00000465408.1:p.Gly434AlafsTer?
ENST00000592915.1:n.1256_1257delinsT (NAGS)
NM_153006.2:c.1368_1369delinsT (NAGS) NP_694551.1:p.Gly457AlafsTer?
XM_011524438.1:c.1268+196_1268+197delinsT (NAGS) XP_011522740.1:n.1268+196_1268+197delinsT
XM_011524439.1:c.870_871delinsT (NAGS) XP_011522741.1:p.Gly291AlafsTer?
XM_011525035.1:c.-463+15881_-463+15882delinsA (PYY) XP_011523337.1:n.-463+15881_-463+15882delinsA
XM_011524439.2:c.870_871delinsT (NAGS) XP_011522741.1:p.Gly291AlafsTer?
NM_153006.3:c.1368_1369delinsT (NAGS) MANE Select NP_694551.1:p.Gly457AlafsTer?