Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19967021_19967031delinsTTAGCTGTAAA , CM000670.2:g.19967021_19967031delinsTTAGCTGTAAA | GRCh38 |
| NC_000008.10:g.19824532_19824542delinsTTAGCTGTAAA , CM000670.1:g.19824532_19824542delinsTTAGCTGTAAA | GRCh37 |
| NC_000008.9:g.19868812_19868822delinsTTAGCTGTAAA | NCBI36 |
| NG_008855.1:g.32951_32961delinsTTAGCTGTAAA | |
| NG_008855.2:g.70305_70315delinsTTAGCTGTAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.*1711_*1721delinsTTAGCTGTAAA MANE Select | ENSP00000497642.1:n.*1711_*1721delinsTTAG... | |
| ENST00000650478.1:c.2079_2089delinsTTAGCTGTAAA | ENSP00000497560.1:n.2079_2089delinsTTAGCT... | |
| ENST00000311322.8:c.*1711_*1721delinsTTAGCTGTAAA | ENSP00000309757.6:n.*1711_*1721delinsTTAG... | |
| NM_000237.2:c.*1711_*1721delinsTTAGCTGTAAA | NP_000228.1:n.*1711_*1721delinsTTAGCTGTAA... | |
| NM_000237.3:c.*1711_*1721delinsTTAGCTGTAAA MANE Select | NP_000228.1:n.*1711_*1721delinsTTAGCTGTAA... |