Linked Data
ClinVar Variation Id:
12236
dbSNP Id:
rs1375617541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829744dup , CM000678.2:g.68829744dup | GRCh38 |
| NC_000016.9:g.68863647dup , CM000678.1:g.68863647dup | GRCh37 |
| NC_000016.8:g.67421148dup | NCBI36 |
| NG_008021.1:g.97453dup , LRG_301:g.97453dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2386dup MANE Select | ENSP00000261769.4:p.Arg796ProfsTer11 | |
| ENST00000261769.9:c.2386dup | ENSP00000261769.4:p.Arg796ProfsTer11 | |
| ENST00000422392.6:c.2203dup | ENSP00000414946.2:p.Arg735ProfsTer11 | |
| ENST00000562118.1:n.604dup | ||
| ENST00000562836.5:n.2457dup | ||
| ENST00000566510.5:c.*1052dup | ENSP00000458139.1:n.*1052dup | |
| ENST00000566612.5:c.*626dup | ENSP00000454782.1:n.*626dup | |
| ENST00000611625.4:c.2449dup | ENSP00000481063.1:p.Arg817ProfsTer11 | |
| ENST00000612417.4:c.1853+3190dup | ENSP00000478360.1:n.1853+3190dup | |
| ENST00000621016.4:c.1866-4459dup | ENSP00000480664.1:n.1866-4459dup | |
| NM_004360.3:c.2386dup , LRG_301t1:c.2386dup | NP_004351.1:p.Arg796ProfsTer11 | |
| XM_011523488.1:c.1651dup | XP_011521790.1:p.Arg551ProfsTer11 | |
| XM_011523489.1:c.1651dup | XP_011521791.1:p.Arg551ProfsTer11 | |
| NM_001317184.1:c.2203dup | NP_001304113.1:p.Arg735ProfsTer11 | |
| NM_001317185.1:c.838dup | NP_001304114.1:p.Arg280ProfsTer11 | |
| NM_001317186.1:c.421dup | NP_001304115.1:p.Arg141ProfsTer11 | |
| NM_004360.4:c.2386dup | NP_004351.1:p.Arg796ProfsTer11 | |
| NM_004360.5:c.2386dup MANE Select | NP_004351.1:p.Arg796ProfsTer11 | |
| NM_001317184.2:c.2203dup | NP_001304113.1:p.Arg735ProfsTer11 | |
| NM_001317185.2:c.838dup | NP_001304114.1:p.Arg280ProfsTer11 | |
| NM_001317186.2:c.421dup | NP_001304115.1:p.Arg141ProfsTer11 |