Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226697_5226708del , CM000673.2:g.5226697_5226708del | GRCh38 |
| NC_000011.9:g.5247927_5247938del , CM000673.1:g.5247927_5247938del | GRCh37 |
| NC_000011.8:g.5204503_5204514del | NCBI36 |
| NG_000007.3:g.70911_70922del | |
| NG_059281.1:g.5367_5378del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.187_198del | ENSP00000494175.1:p.Ala63_Lys66del | |
| ENST00000335295.4:c.187_198del MANE Select | ENSP00000333994.3:p.Ala63_Lys66del | |
| ENST00000380315.2:c.187_198del | ENSP00000369671.2:p.Ala63_Lys66del | |
| ENST00000475226.1:n.119_130del | ||
| ENST00000485743.1:n.238_249del | ||
| ENST00000633227.1:c.*3_*14del | ENSP00000488004.1:n.*3_*14del | |
| NM_000518.4:c.187_198del | NP_000509.1:p.Ala63_Lys66del | |
| NM_000518.5:c.187_198del MANE Select | NP_000509.1:p.Ala63_Lys66del |