Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044179_114044180insA , CM000672.2:g.114044179_114044180insA | GRCh38 |
| NC_000010.10:g.115803938_115803939insA , CM000672.1:g.115803938_115803939insA | GRCh37 |
| NC_000010.9:g.115793928_115793929insA | NCBI36 |
| NG_012187.1:g.5133_5134insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.47_48insA MANE Select | ENSP00000358301.2:p.Ser17ValfsTer? | |
| ENST00000369295.3:c.47_48insA | ENSP00000358301.2:p.Ser17ValfsTer? | |
| NM_000684.2:c.47_48insA | NP_000675.1:p.Ser17ValfsTer? | |
| NM_000684.3:c.47_48insA MANE Select | NP_000675.1:p.Ser17ValfsTer? |