Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86726571del , CM000670.2:g.86726571del | GRCh38 |
| NC_000008.10:g.87738799del , CM000670.1:g.87738799del | GRCh37 |
| NC_000008.9:g.87807915del | NCBI36 |
| NG_016980.1:g.22105del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.298del MANE Select | NP_061971.3:p.Glu100SerfsTer25 |
| ENST00000320005.6:c.298del MANE Select | ENSP00000316605.5:p.Glu100SerfsTer25 |
| NM_019098.4:c.298del | NP_061971.3:p.Glu100SerfsTer25 |
| ENST00000320005.5:c.298del | ENSP00000316605.5:p.Glu100SerfsTer25 |
| ENST00000519777.1:n.280del | |
| ENST00000681746.1:c.298del | ENSP00000505959.1:p.Glu100SerfsTer25 |