Linked Data
gnomAD v4:
9-77794476-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794478del , CM000671.2:g.77794478del | GRCh38 |
| NC_000009.11:g.80409394del , CM000671.1:g.80409394del | GRCh37 |
| NC_000009.10:g.79599214del | NCBI36 |
| NG_027904.2:g.241827del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.721del MANE Select | ENSP00000286548.4:p.Glu241SerfsTer? | |
| ENST00000286548.8:c.721del | ENSP00000286548.4:p.Glu241SerfsTer? | |
| NM_002072.4:c.721del | NP_002063.2:p.Glu241SerfsTer? | |
| XM_017014628.2:c.547del | XP_016870117.1:p.Glu183SerfsTer? | |
| NM_002072.5:c.721del MANE Select | NP_002063.2:p.Glu241SerfsTer? |