Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225466_5225726del , CM000673.2:g.5225466_5225726del | GRCh38 |
| NC_000011.9:g.5246696_5246956del , CM000673.1:g.5246696_5246956del | GRCh37 |
| NC_000011.8:g.5203272_5203532del | NCBI36 |
| NG_000007.3:g.71890_72150del | |
| NG_059281.1:g.6346_6606del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.316_*132del | ENSP00000494175.1:n.[c.316_*132del;Leu106... | |
| ENST00000335295.4:c.316_*132del MANE Select | ENSP00000333994.3:n.[c.316_*132del;Leu106... | |
| NM_000518.4:c.316_*132del | NP_000509.1:n.[c.316_*132del;Leu106=] | |
| NM_000518.5:c.316_*132del MANE Select | NP_000509.1:n.[c.316_*132del;Leu106=] |