Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954843del , CM000673.2:g.86954843del | GRCh38 |
| NC_000011.9:g.86665885del , CM000673.1:g.86665885del | GRCh37 |
| NC_000011.8:g.86343533del | NCBI36 |
| NG_011752.1:g.5551del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.245del MANE Select | ENSP00000434034.1:p.Phe82SerfsTer? | |
| ENST00000531380.1:c.245del | ENSP00000434034.1:p.Phe82SerfsTer? | |
| NM_012193.3:c.245del | NP_036325.2:p.Phe82SerfsTer? | |
| NM_012193.4:c.245del MANE Select | NP_036325.2:p.Phe82SerfsTer? |