Linked Data
dbSNP Id:
rs377767373
MyVariant Identifiers:
chr18:g.48604725_48604728dupAGAG (hg19)
chr18:g.51078355_51078358dupAGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078355_51078358dup , CM000680.2:g.51078355_51078358dup | GRCh38 |
| NC_000018.9:g.48604725_48604728dup , CM000680.1:g.48604725_48604728dup | GRCh37 |
| NC_000018.8:g.46858723_46858726dup | NCBI36 |
| NG_013013.2:g.115316_115319dup , LRG_318:g.115316_115319dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1547_1550dup | ENSP00000465878.2:p.Ser517ArgfsTer11 | |
| ENST00000589076.6:c.1547_1550dup | ENSP00000466934.2:p.Ser517ArgfsTer11 | |
| ENST00000589941.2:c.1547_1550dup | ENSP00000465874.2:p.Ser517ArgfsTer11 | |
| ENST00000590061.2:c.1547_1550dup | ENSP00000464772.2:p.Ser517ArgfsTer11 | |
| ENST00000593223.2:c.*1544_*1547dup | ENSP00000466118.2:n.*1544_*1547dup | |
| ENST00000611848.2:c.*199_*202dup | ENSP00000478613.2:n.*199_*202dup | |
| ENST00000684953.1:n.3562_3565dup | ||
| ENST00000685090.1:n.3477_3480dup | ||
| ENST00000685232.1:n.1768_1771dup | ||
| ENST00000688574.1:n.1655_1658dup | ||
| ENST00000691124.1:n.4508_4511dup | ||
| ENST00000342988.8:c.1547_1550dup MANE Select | ENSP00000341551.3:p.Ser517ArgfsTer11 | |
| ENST00000342988.7:c.1547_1550dup | ENSP00000341551.3:p.Ser517ArgfsTer11 | |
| ENST00000398417.6:c.1547_1550dup | ENSP00000381452.1:p.Ser517ArgfsTer11 | |
| ENST00000586253.1:n.269_272dup | ||
| ENST00000588745.5:c.1259_1262dup | ENSP00000464901.1:p.Ser421ArgfsTer11 | |
| ENST00000591126.5:n.3548_3551dup | ||
| ENST00000592186.5:c.1194_1197dup | ENSP00000468611.1:n.1194_1197dup | |
| ENST00000611848.1:c.860_863dup | ||
| NM_005359.5:c.1547_1550dup , LRG_318t1:c.1547_1550dup | NP_005350.1:p.Ser517ArgfsTer11 | |
| NM_005359.6:c.1547_1550dup MANE Select | NP_005350.1:p.Ser517ArgfsTer11 |