Linked Data
dbSNP Id:
rs1294619437
MyVariant Identifiers:
chr17:g.42083506_42083507insCCTGGAG (hg19)
chr17:g.44006138_44006139insCCTGGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44006138_44006139insCCTGGAG , CM000679.2:g.44006138_44006139insCCTGGAG | GRCh38 |
| NC_000017.10:g.42083506_42083507insCCTGGAG , CM000679.1:g.42083506_42083507insCCTGGAG | GRCh37 |
| NC_000017.9:g.39439032_39439033insCCTGGAG | NCBI36 |
| NG_008106.1:g.6475_6476insCCTGGAG | |
| NG_023338.1:g.3331_3332insCTCCAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293404.8:c.816_817insCCTGGAG (NAGS) MANE Select | ENSP00000293404.2:p.Asp273ProfsTer25 | |
| ENST00000293404.7:c.816_817insCCTGGAG (NAGS) | ENSP00000293404.2:p.Asp273ProfsTer25 | |
| ENST00000589767.1:c.723_724insCCTGGAG (NAGS) | ENSP00000465408.1:p.Asp242ProfsTer25 | |
| ENST00000592915.1:n.91_92insCCTGGAG (NAGS) | ||
| NM_153006.2:c.816_817insCCTGGAG (NAGS) | NP_694551.1:p.Asp273ProfsTer25 | |
| XM_011524438.1:c.816_817insCCTGGAG (NAGS) | XP_011522740.1:p.Asp273ProfsTer25 | |
| XM_011524439.1:c.318_319insCCTGGAG (NAGS) | XP_011522741.1:p.Asp107ProfsTer25 | |
| XM_011525035.1:c.-463+17433_-463+17434insCTCCAGG (PYY) | XP_011523337.1:n.-463+17433_-463+17434insCTCCAGG | |
| XM_011524439.2:c.318_319insCCTGGAG (NAGS) | XP_011522741.1:p.Asp107ProfsTer25 | |
| NM_153006.3:c.816_817insCCTGGAG (NAGS) MANE Select | NP_694551.1:p.Asp273ProfsTer25 |