Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46837116_46837118del , CM000685.2:g.46837116_46837118del | GRCh38 |
| NC_000023.10:g.46696551_46696553del , CM000685.1:g.46696551_46696553del | GRCh37 |
| NC_000023.9:g.46581495_46581497del | NCBI36 |
| NG_009107.1:g.5205_5207del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006915.3:c.16_18del MANE Select | NP_008846.2:p.Ser6del |
| ENST00000218340.4:c.16_18del MANE Select | ENSP00000218340.3:p.Ser6del |
| NM_006915.2:c.16_18del | NP_008846.2:p.Ser6del |
| ENST00000218340.3:c.16_18del | ENSP00000218340.3:p.Ser6del |