Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225609del , CM000673.2:g.5225609del | GRCh38 |
| NC_000011.9:g.5246839del , CM000673.1:g.5246839del | GRCh37 |
| NC_000011.8:g.5203415del | NCBI36 |
| NG_000007.3:g.72008del | |
| NG_059281.1:g.6464del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.434del MANE Select | NP_000509.1:p.Lys145SerfsTer14 |
| ENST00000335295.4:c.434del MANE Select | ENSP00000333994.3:p.Lys145SerfsTer14 |
| NM_000518.4:c.434del | NP_000509.1:p.Lys145SerfsTer14 |
| ENST00000633227.1:c.*250del | ENSP00000488004.1:n.*250del |
| ENST00000647020.1:c.434del | ENSP00000494175.1:p.Lys145SerfsTer14 |