Canonical Allele Identifier: CA2809577727

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007740_44007741del , CM000679.2:g.44007740_44007741del GRCh38
NC_000017.10:g.42085108_42085109del , CM000679.1:g.42085108_42085109del GRCh37
NC_000017.9:g.39440634_39440635del NCBI36
NG_008106.1:g.8077_8078del
NG_023338.1:g.1729_1730del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1418_1419del (NAGS) MANE Select ENSP00000293404.2:p.Trp473SerfsTer17
ENST00000293404.7:c.1418_1419del (NAGS) ENSP00000293404.2:p.Trp473SerfsTer17
ENST00000589767.1:c.1349_1350del (NAGS) ENSP00000465408.1:p.Trp450SerfsTer17
ENST00000592915.1:n.1306_1307del (NAGS)
NM_153006.2:c.1418_1419del (NAGS) NP_694551.1:p.Trp473SerfsTer17
XM_011524438.1:c.1268+246_1268+247del (NAGS) XP_011522740.1:n.1268+246_1268+247del
XM_011524439.1:c.920_921del (NAGS) XP_011522741.1:p.Trp307SerfsTer17
XM_011525035.1:c.-463+15831_-463+15832del (PYY) XP_011523337.1:n.-463+15831_-463+15832del
XM_011524439.2:c.920_921del (NAGS) XP_011522741.1:p.Trp307SerfsTer17
NM_153006.3:c.1418_1419del (NAGS) MANE Select NP_694551.1:p.Trp473SerfsTer17