Linked Data
dbSNP Id:
rs377767338
MyVariant Identifiers:
chr18:g.48586256_48586259dupGCAT (hg19)
chr18:g.51059886_51059889dupGCAT (hg38)
PubMed:
PMID:16436638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51059886_51059889dup , CM000680.2:g.51059886_51059889dup | GRCh38 |
| NC_000018.9:g.48586256_48586259dup , CM000680.1:g.48586256_48586259dup | GRCh37 |
| NC_000018.8:g.46840254_46840257dup | NCBI36 |
| NG_013013.2:g.96847_96850dup , LRG_318:g.96847_96850dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.925_928dup | ENSP00000465878.2:p.Phe310CysfsTer13 | |
| ENST00000589076.6:c.925_928dup | ENSP00000466934.2:p.Phe310CysfsTer13 | |
| ENST00000589941.2:c.925_928dup | ENSP00000465874.2:p.Phe310CysfsTer13 | |
| ENST00000590061.2:c.925_928dup | ENSP00000464772.2:p.Phe310CysfsTer13 | |
| ENST00000593223.2:c.925_928dup | ENSP00000466118.2:p.Phe310CysfsTer13 | |
| ENST00000611848.2:c.925_928dup | ENSP00000478613.2:p.Phe310CysfsTer13 | |
| ENST00000684953.1:n.2297_2300dup | ||
| ENST00000685090.1:n.1376_1379dup | ||
| ENST00000685232.1:n.1033_1036dup | ||
| ENST00000688307.1:n.176_179dup | ||
| ENST00000688574.1:n.1033_1036dup | ||
| ENST00000688903.1:n.1139_1142dup | ||
| ENST00000690892.1:n.1033_1036dup | ||
| ENST00000342988.8:c.925_928dup MANE Select | ENSP00000341551.3:p.Phe310CysfsTer13 | |
| ENST00000342988.7:c.925_928dup | ENSP00000341551.3:p.Phe310CysfsTer13 | |
| ENST00000398417.6:c.925_928dup | ENSP00000381452.1:p.Phe310CysfsTer13 | |
| ENST00000588745.5:c.667+4893_667+4896dup | ENSP00000464901.1:n.667+4893_667+4896dup | |
| ENST00000591126.5:n.2926_2929dup | ||
| ENST00000592186.5:c.925_928dup | ENSP00000468611.1:p.Phe310CysfsTer? | |
| ENST00000611848.1:c.125_128dup | ||
| NM_005359.5:c.925_928dup , LRG_318t1:c.925_928dup | NP_005350.1:p.Phe310CysfsTer13 | |
| NM_005359.6:c.925_928dup MANE Select | NP_005350.1:p.Phe310CysfsTer13 |