Canonical Allele Identifier: CA2261182289

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44006759_44006761delinsCCG , CM000679.2:g.44006759_44006761delinsCCG GRCh38
NC_000017.10:g.42084127_42084129delinsCCG , CM000679.1:g.42084127_42084129delinsCCG GRCh37
NC_000017.9:g.39439653_39439655delinsCCG NCBI36
NG_008106.1:g.7096_7098delinsCCG
NG_023338.1:g.2709_2711delinsCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1096+50_1096+52delinsCCG (NAGS) MANE Select ENSP00000293404.2:n.1096+50_1096+52delinsCCG
ENST00000293404.7:c.1096+50_1096+52delinsCCG (NAGS) ENSP00000293404.2:n.1096+50_1096+52delinsCCG
ENST00000589767.1:c.1003+50_1003+52delinsCCG (NAGS) ENSP00000465408.1:n.1003+50_1003+52delinsCCG
ENST00000592915.1:n.421_423delinsCCG (NAGS)
NM_153006.2:c.1096+50_1096+52delinsCCG (NAGS) NP_694551.1:n.1096+50_1096+52delinsCCG
XM_011524438.1:c.1096+50_1096+52delinsCCG (NAGS) XP_011522740.1:n.1096+50_1096+52delinsCCG
XM_011524439.1:c.598+50_598+52delinsCCG (NAGS) XP_011522741.1:n.598+50_598+52delinsCCG
XM_011525035.1:c.-463+16811_-463+16813delinsCGG (PYY) XP_011523337.1:n.-463+16811_-463+16813delinsCGG
XM_011524439.2:c.598+50_598+52delinsCCG (NAGS) XP_011522741.1:n.598+50_598+52delinsCCG
NM_153006.3:c.1096+50_1096+52delinsCCG (NAGS) MANE Select NP_694551.1:n.1096+50_1096+52delinsCCG