ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86511410_86511431del , CM000678.2:g.86511410_86511431del | GRCh38 |
| NC_000016.9:g.86545016_86545037del , CM000678.1:g.86545016_86545037del | GRCh37 |
| NC_000016.8:g.85102517_85102538del | NCBI36 |
| NG_016273.1:g.5884_5905del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262426.6:c.841_862del MANE Select | ENSP00000262426.4:p.Gly281SerfsTer? | |
| ENST00000262426.5:c.841_862del | ENSP00000262426.4:p.Gly281SerfsTer? | |
| NM_001451.2:c.841_862del | NP_001442.2:p.Gly281SerfsTer? | |
| NM_001451.3:c.841_862del MANE Select | NP_001442.2:p.Gly281SerfsTer? |