Linked Data
ClinVar Variation Id:
2427
dbSNP Id:
rs730880266
gnomAD v3:
17-44006637-CG-C
gnomAD v4:
17-44006637-CG-C
PubMed:
PMID:12594532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006638del , CM000679.2:g.44006638del | GRCh38 |
| NC_000017.10:g.42084006del , CM000679.1:g.42084006del | GRCh37 |
| NC_000017.9:g.39439532del | NCBI36 |
| NG_008106.1:g.6975del | |
| NG_023338.1:g.2832del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000293404.8:c.1025del (NAGS) MANE Select | ENSP00000293404.2:p.Arg342ProfsTer? | |
| ENST00000293404.7:c.1025del (NAGS) | ENSP00000293404.2:p.Arg342ProfsTer? | |
| ENST00000589767.1:c.932del (NAGS) | ENSP00000465408.1:p.Arg311ProfsTer? | |
| ENST00000592915.1:n.300del (NAGS) | ||
| NM_153006.2:c.1025del (NAGS) | NP_694551.1:p.Arg342ProfsTer? | |
| XM_011524438.1:c.1025del (NAGS) | XP_011522740.1:p.Arg342ProfsTer? | |
| XM_011524439.1:c.527del (NAGS) | XP_011522741.1:p.Arg176ProfsTer? | |
| XM_011525035.1:c.-463+16934del (PYY) | XP_011523337.1:n.-463+16934del | |
| XM_011524439.2:c.527del (NAGS) | XP_011522741.1:p.Arg176ProfsTer? | |
| NM_153006.3:c.1025del (NAGS) MANE Select | NP_694551.1:p.Arg342ProfsTer? |