Canonical Allele Identifier: CA2638146958

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44007748del , CM000679.2:g.44007748del GRCh38
NC_000017.10:g.42085116del , CM000679.1:g.42085116del GRCh37
NC_000017.9:g.39440642del NCBI36
NG_008106.1:g.8085del
NG_023338.1:g.1724del

Transcript Alleles

HGVS Amino-acid Change
ENST00000293404.8:c.1426del (NAGS) MANE Select ENSP00000293404.2:p.Arg476GlyfsTer?
ENST00000293404.7:c.1426del (NAGS) ENSP00000293404.2:p.Arg476GlyfsTer?
ENST00000589767.1:c.1357del (NAGS) ENSP00000465408.1:p.Arg453GlyfsTer?
ENST00000592915.1:n.1314del (NAGS)
NM_153006.2:c.1426del (NAGS) NP_694551.1:p.Arg476GlyfsTer?
XM_011524438.1:c.1268+254del (NAGS) XP_011522740.1:n.1268+254del
XM_011524439.1:c.928del (NAGS) XP_011522741.1:p.Arg310GlyfsTer?
XM_011525035.1:c.-463+15826del (PYY) XP_011523337.1:n.-463+15826del
XM_011524439.2:c.928del (NAGS) XP_011522741.1:p.Arg310GlyfsTer?
NM_153006.3:c.1426del (NAGS) MANE Select NP_694551.1:p.Arg476GlyfsTer?