ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52515071del , CM000674.2:g.52515071del | GRCh38 |
| NC_000012.11:g.52908855del , CM000674.1:g.52908855del | GRCh37 |
| NC_000012.10:g.51195122del | NCBI36 |
| NG_008297.1:g.10394del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1649del MANE Select | ENSP00000252242.4:p.Gly550AlafsTer? | |
| ENST00000252242.8:c.1649del | ENSP00000252242.4:p.Gly550AlafsTer? | |
| ENST00000552952.1:n.574del | ||
| NM_000424.3:c.1649del | NP_000415.2:p.Gly550AlafsTer? | |
| NM_000424.4:c.1649del MANE Select | NP_000415.2:p.Gly550AlafsTer? |