Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226684_5226690del , CM000673.2:g.5226684_5226690del | GRCh38 |
| NC_000011.9:g.5247914_5247920del , CM000673.1:g.5247914_5247920del | GRCh37 |
| NC_000011.8:g.5204490_5204496del | NCBI36 |
| NG_000007.3:g.70930_70936del | |
| NG_059281.1:g.5386_5392del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.206_212del | ENSP00000494175.1:p.Leu69ProfsTer19 | |
| ENST00000335295.4:c.206_212del MANE Select | ENSP00000333994.3:p.Leu69ProfsTer19 | |
| ENST00000380315.2:c.206_212del | ENSP00000369671.2:p.Leu69ProfsTer19 | |
| ENST00000475226.1:n.138_144del | ||
| ENST00000485743.1:n.257_263del | ||
| ENST00000633227.1:c.*22_*28del | ENSP00000488004.1:n.*22_*28del | |
| NM_000518.4:c.206_212del | NP_000509.1:p.Leu69ProfsTer19 | |
| NM_000518.5:c.206_212del MANE Select | NP_000509.1:p.Leu69ProfsTer19 |