Linked Data
ClinVar Variation Id:
182376
dbSNP Id:
rs730881653
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823441dup , CM000678.2:g.68823441dup | GRCh38 |
| NC_000016.9:g.68857344dup , CM000678.1:g.68857344dup | GRCh37 |
| NC_000016.8:g.67414845dup | NCBI36 |
| NG_008021.1:g.91150dup , LRG_301:g.91150dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1979dup MANE Select | ENSP00000261769.4:p.Asp662Ter | |
| ENST00000261769.9:c.1979dup | ENSP00000261769.4:p.Asp662Ter | |
| ENST00000422392.6:c.1796dup | ENSP00000414946.2:p.Asp601Ter | |
| ENST00000562118.1:n.197dup | ||
| ENST00000562836.5:n.2050dup | ||
| ENST00000566510.5:c.*645dup | ENSP00000458139.1:n.*645dup | |
| ENST00000566612.5:c.*219dup | ENSP00000454782.1:n.*219dup | |
| ENST00000611625.4:c.2042dup | ENSP00000481063.1:p.Asp683Ter | |
| ENST00000612417.4:c.1830+1322dup | ENSP00000478360.1:n.1830+1322dup | |
| ENST00000621016.4:c.1865+1287dup | ENSP00000480664.1:n.1865+1287dup | |
| NM_004360.3:c.1979dup , LRG_301t1:c.1979dup | NP_004351.1:p.Asp662Ter | |
| XM_011523488.1:c.1244dup | XP_011521790.1:p.Asp417Ter | |
| XM_011523489.1:c.1244dup | XP_011521791.1:p.Asp417Ter | |
| NM_001317184.1:c.1796dup | NP_001304113.1:p.Asp601Ter | |
| NM_001317185.1:c.431dup | NP_001304114.1:p.Asp146Ter | |
| NM_001317186.1:c.14dup | NP_001304115.1:p.Asp7Ter | |
| NM_004360.4:c.1979dup | NP_004351.1:p.Asp662Ter | |
| NM_004360.5:c.1979dup MANE Select | NP_004351.1:p.Asp662Ter | |
| NM_001317184.2:c.1796dup | NP_001304113.1:p.Asp601Ter | |
| NM_001317185.2:c.431dup | NP_001304114.1:p.Asp146Ter | |
| NM_001317186.2:c.14dup | NP_001304115.1:p.Asp7Ter |