Linked Data
dbSNP Id:
rs2118444045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794551del , CM000671.2:g.77794551del | GRCh38 |
| NC_000009.11:g.80409467del , CM000671.1:g.80409467del | GRCh37 |
| NC_000009.10:g.79599287del | NCBI36 |
| NG_027904.2:g.241754del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.648del MANE Select | ENSP00000286548.4:p.Trp216Ter | |
| ENST00000286548.8:c.648del | ENSP00000286548.4:p.Trp216Ter | |
| NM_002072.4:c.648del | NP_002063.2:p.Trp216Ter | |
| XM_017014628.2:c.474del | XP_016870117.1:p.Trp158Ter | |
| NM_002072.5:c.648del MANE Select | NP_002063.2:p.Trp216Ter |